Visualizing ENCODE Data in the UCSC Genome Browser · Variant Annotation Integrator 1. Go to the...

64
Visualizing ENCODE Data in the UCSC Genome Browser Pauline Fujita, Ph.D. UCSC Genome Bioinformatics Group

Transcript of Visualizing ENCODE Data in the UCSC Genome Browser · Variant Annotation Integrator 1. Go to the...

Page 1: Visualizing ENCODE Data in the UCSC Genome Browser · Variant Annotation Integrator 1. Go to the Variant Annotation Integrator • Tools -> V.A.I. 2. Select Variants: • Variants:

Visualizing ENCODE Data in the

UCSC Genome Browser

Pauline Fujita PhD13 UCSC Genome Bioinformatics Group 13

13

  

   

Training Resources13 genomesoeucscedu

bull Genomewiki genomewikiucscedu13 bull Mailing list archivesgenomeucsceduFAQ13

bull Training page 13 genomeucscedutraininghtml13

bull Twitter GenomeBrowser13 bull Tutorial videos YouTube channel13 bull Open Helix openhelixcomucsc13

         

Outline

bull Basics search display more info bull Tools for finding ENCODE data bull Annotating a BED file RNAseq example

bull Annotating a VCF file bull Track Hubs What are they How do I

make one bull Exercises

Basic Navigation Main Display genomeucsceducgi-binhgTracksdb=hg19

       

Display Configuration

bull Visibility hide dense squish pack full

bull Track ordering drag and drop

bull Drag and zoomhighlighting bull Configuration page

bull Right click menu

How to find more info

Track Description

Item Description

More info Track Description

More info Item Description

ENCODE

ENCODE Super-track Settings

ENCODE Track Settings

ENCODE Item Details

ENCODE Tools

ENCODE

ENCODE genomeucsceduENCODE

ENCODE Experiment Matrix

ENCODE ChIP-Seq Matrix

ENCODE Experiment Summary

ENCODE Track Search

AAGGACTGAACTCAGGCAGAGTCCAAGAGTCGCAG

GAAC

CTT

TCGA

TCTCCT

File Formats Scale chr2

GM12878 Ht 2 GM12878 Pk 2

2 kb hg19191876000 191877000 191878000 191879000 191880000 191881000

Basic Gene Annotation Set from GENCODE Version 19

DNaseI Hypersensitivity by Digital DNaseI from ENCODEUniversity of Washington

GM12878 DNaseI HS Raw Signal Rep 2 from ENCODEUW

K562 TFBS Uniform Peaks of Znf143_(16618-1-AP) from ENCODEStanfordAnalysisK562 Znf143 IgG-rab ChIP-seq Peaks from ENCODESYDH K562 Znf143 IgG-rab ChIP-seq Signal from ENCODESYDH

K562 polyA+ IFNa30 RNA-seq Alignments from ENCODESYDH

Exome Aggregation Consortium (ExAC) - Variants from 60706 Exomes

STAT1 STAT1 STAT1 STAT1 STAT1

AG

-

TC CT TC G

CT

GM12878 Sg 2 100 _

1 _

K562 Z143 IgR 40 _

3 _

bitlyfileformatsession

BED

wig(gle)

BAM

VCF

Scalechr2

GM12878 Ht 2GM12878 Pk 2

2 kb191876000 191877000

STAT1STAT1STAT1STAT1STAT1

AGGAAC

CTT-

TCGATCCTTCGAAGGACTGAACTCAGGCAGAGTCCAAGAGTCGCAG

CTTCTCCT

GM12878 Sg 2100 _

1 _

K562 Z143 IgR40 _

3 _

File Formats hg19

191878000 191879000 191880000 191881000Basic Gene Annotation Set from GENCODE Version 19

DNaseI Hypersensitivity by Digital DNaseI from ENCODEUniversity of Washington

GM12878 DNaseI HS Raw Signal Rep 2 from ENCODEUW

K562 TFBS Uniform Peaks of Znf143_(16618-1-AP) from ENCODEStanfordAnalysisK562 Znf143 IgG-rab ChIP-seq Peaks from ENCODESYDH K562 Znf143 IgG-rab ChIP-seq Signal from ENCODESYDH

K562 polyA+ IFNa30 RNA-seq Alignments from ENCODESYDH

Exome Aggregation Consortium (ExAC) - Variants from 60706 Exomes

BED

wig(gle)

BAM

VCF

Positional annotations (ex Regions w enriched ChIP-seq signal for TF binding Δrsquol methylation splice jxns from RNA-seq) Continuous signal data of reads (ex DNase I HS and ChIP-seq signals)

Alignments of seq reads mapped to genome (ex RNA-seq alignments)

Variation data SNPs indels Copy Number Variants Structural Variants (ex ExAC data)

Scalechr2

GM12878 Ht 2GM12878 Pk 2

2 kb191876000 191877000

STAT1STAT1STAT1STAT1STAT1

AGGAAC

CTT-

TCGATCCTTCGAAGGACTGAACTCAGGCAGAGTCCAAGAGTCGCAG

CTTCTCCT

GM12878 Sg 2100 _

1 _

K562 Z143 IgR40 _

3 _

DNaseI Hypersensitivity by Digital DNaseI from ENCODEUniversity of Washington

K562 Znf143 IgG-rab ChIP-seq Peaks from ENCODESYDH

K562 polyA+ IFNa30 RNA-seq Alignments from ENCODESYDH

191879000

Indexed File Formats 191878000

Basic Gene Annotation Set from GENCODE Version 19

GM12878 DNaseI HS Raw Signal Rep 2 from ENCODEUW

K562 TFBS Uniform Peaks of Znf143_(16618-1-AP) from ENCODEStanfordAnalysis

K562 Znf143 IgG-rab ChIP-seq Signal from ENCODESYDH

Exome Aggregation Consortium (ExAC) - Variants from 60706 Exomes

hg19191880000 191881000

BED bigBed

wig(gle) bigWig

BAM

VCF

   

  

Indexed File Formats

bull Only displayed portions of files transferred to UCSC

bull Display large files (would time out) bull File + index on your web-accessible

server (http https or ftp)bull Faster display bull More user control

File Formats

File Formats

File Formats

File Formats wwwencodeprojectorghelpfile-formats

Help File formats

Custom Tracks

Custom Tracks genomeucsceducgi-binhgCustom

Custom Tracks genomeucsceducgi-binhgCustom

track name=rdquoBED_custom_trackrdquo13 chr7 127471196 127472363 Gene1

Annotating your data BED

Tools Data Integrator

Data Integrator genomeucsceducgi-binhgIntegrator

Data Integrator

Data Integrator

httpgenomeucsceducgi-binhgIntegratorhgsid=43297266

1 of 1 62615 320 PM

Data Integrator ct_SYDHTFBS_4733chrom ct_SYDHTFBS_4733chromStart ct_SYDHTFBS_4733chromEnd ct_SYDHTFBS_4733name ct_SYDHTFBS_4733score wgEncodeGencodeBasicV19name wgEncodeGencodeBasicV19name2chr21 33031473 33032186 608 ENST000004493391 AP0002531 chr21 33031473 33032186 608 ENST000002701426 SOD1 chr21 33031473 33032186 608 ENST000003899954 SOD1 chr21 33031473 33032186 608 ENST000004709441 SOD1

       

Annotating your VCF file

1 Make a VCF custom track 2 Go to the Variant Annotation Integrator 3 Choose your track 4 Add annotations

   

Remotely Hosted Custom Tracks bull Put data file (bigBedbigWigBAMVCF etc)

in internet accessible location bull Must have 1 track info 2 bigDataUrl bull VCF example

track type=vcfTabix name=VCF_Example description=VCF Ex 1 1000 Genomes phase 1interim SNVs bigDataUrl= httphgwdevcseucscedu~paulinepresentationsvcfExamplevcfgz

  

Variant Annotation Integrator13

bull Upload pgSnp or VCF custom track13 bull Associate UCSC annotations with your

uploaded variant calls13 bull Add dbSNP info if dbSNP identifier

found13 bull Select custom track and VAI options13

3713

Variant Annotation Integrator13

Tools Variant Annotation Integrator

Variant Annotation Integrator13 genomeucsceducgi-binhgVai

   

  

Track Data Hubs 13

bull Remotely hosted13 bull Data persistence13 bull File formats 13

bigBED bigWig BAM VCF13 bull Track organization 13

groups supertracks13 bull multiWigs13 bull Assembly hubs13

Track Hubs

My Data Track Hubs

Track Hubs genomeucsceducgi-binhgHubConnect

My Data Track Hubs

My Hubs genomeucsceducgi-binhgHubConnect

My Data Track Hubs

   

Make Your Own Track Hub

You will need bull Data (compressed binary index formats

bigBed bigWig BAM VCF) bull Text files to define properties of the

track hub bull Internet-enabled webftp server bull Assembly Hubs

a twoBit sequence file

Track Hubs genomeucsceducgi-binhgHubConnect

My Data Track Hubs

myHub - directory containing track hub files

hubtxt - a short description of hub properties

genomestxt - list of genome assemblies included

hg19 - directory of data for the hg19 human assembly

Data files BAM bigBed bigWig VCF

An Example Assembly Hub

An Arabidopsis hub13 httpgenome-testcseucscedu

~paulinehubsPlantshubtxt13 13

131313

13

1313

     

Acknowledgements UCSC Genome Browser team

ndash David Haussler ndash co-PI ndash Jim Kent ndash Browser Concept BLAT Team Leader PI ndash Bob Kuhn ndash Associate Director Outreach ndash co-PI ndash Donna Karolchik Ann Zweig ndash Project Management

Engineering QA Docs Support Sys-admins

Angie Hinrichs Katrina Learned Jorge Garcia Pauline Fujita Erich Weiler Kate Rosenbloom

Hiram Clawson Luvina Guruvadoo Gary Moro Steve Heitner Galt Barber

Brian Raney Brian Lee

Max Haeussler Jonathan Caspar Matt Speir

THE GB TEAM

UC Santa Cruz Genomics Institute

Funding Sources

National Human Genome Research Institute (NHGRI)

National Cancer Institute (NCI)

National Institute for Dental and Cranio-Facial Research (NIDCR)

National Institute for Child Health and Human Development (NICHD)

QB3 (UCBerkeley UCSF UCSC)

American Recovery and Reinvestment Act (ARRA) stimulus funds

UC Santa Cruz Genomics Institute

genomeucscedu

THANK YOU

UC Santa Cruz Genomics Institute

   

Exercises 1 Load example BED and VCF tracks via url 2 Look at custom track data by pasting url into a

web browser 3 Annotate the TFBS custom track using the Data

Integrator 4 Annotate the VCF custom track using the Variant

Annotation Integrator

   

     

Exercise 1 Load example BED and VCF tracks via url

1 Go to the Custom tracks menu bull My Data -gt Custom Tracks

2 Input this url httpbitlycustomtracks (note that you must include the rdquohttprdquo part of this url or you will get an error) and click [submit]

3 Click the [Go to genome browser] button 4 Once in the main Browser jump to this position

bull chr2133034804-33037719 5 See if you can drag your 2 custom tracks to the top of

the display

Exercise 2 Exploring your BED and VCF tracks

1 Now that you have 2 custom tracks loaded take a look at the data by pasting that same url into a web browser

2 These custom tracks are actually data copied from some existing tracks see if you can find them turn them on and observe that the original tracks and custom tracks look the same in the browser bull Track 1 (BED format) Group (Regulation) Super

Track (ENC TF Binding) Track (SYDH TFBS) bull Track 2 (VCF format) Group (Variation) Track

(1000G Ph1 Vars) 3 Navigate to this position for best comparison (esp for the

VCF track) chr2133034804-33037719

   

   

Exercise 3 Annotate your BED with the Data Integrator

1 Go to the Data Integrator 2 Once there select

1 Region to annotate chr2133031597-33041570 2 Add data source group (custom tracks) track (SYDHhellip) [click

add]3 Now choose which annotations you want to add by [add]ing more

tracks to the list ndash ex 1 Find the genes that overlap with your regions group (Genes and

Gene Prediction) track (GENCODE V19) view (Genes)subtrack (Basic) [add]

2 Find the SNPs that overlap with your regions group (Variation)track (Common SNPs) [add]

Choose which fields to include in your outputOutput options -gt Choose fields [Done] -gt [get output]

   

   

   

Exercise 4 Annotate your VCF with the

Variant Annotation Integrator

1 Go to the Variant Annotation Integratorbull Tools -gt VAI

2 Select Variants bull Variants ldquoVCF Ex 1helliprdquo

3 Now choose which annotations you want to addbull To determine which gene regions your variants fall into select a

gene track (Select Genes = ldquoBasic Gene Annotation SethellipGENCODErdquo)

bull Add regulatory annotations Under ldquoSelect Regulatory Annotationsrdquo click the ldquo+rdquo button to choose which TFs to include (or select none to include all binding sites)

Bonus Material

Where to search genomeucsceducgi-binhgGateway

Where to search genomeucsceducgi-binhgGateway

Where to search Main Browser genomeucsceducgi-binhgTracks

Public Hubs

My Data Track Hubs

Where to search genomeucsceducgi-binhgHubConnect

Track search

Track search

Track search

Page 2: Visualizing ENCODE Data in the UCSC Genome Browser · Variant Annotation Integrator 1. Go to the Variant Annotation Integrator • Tools -> V.A.I. 2. Select Variants: • Variants:

13

  

   

Training Resources13 genomesoeucscedu

bull Genomewiki genomewikiucscedu13 bull Mailing list archivesgenomeucsceduFAQ13

bull Training page 13 genomeucscedutraininghtml13

bull Twitter GenomeBrowser13 bull Tutorial videos YouTube channel13 bull Open Helix openhelixcomucsc13

         

Outline

bull Basics search display more info bull Tools for finding ENCODE data bull Annotating a BED file RNAseq example

bull Annotating a VCF file bull Track Hubs What are they How do I

make one bull Exercises

Basic Navigation Main Display genomeucsceducgi-binhgTracksdb=hg19

       

Display Configuration

bull Visibility hide dense squish pack full

bull Track ordering drag and drop

bull Drag and zoomhighlighting bull Configuration page

bull Right click menu

How to find more info

Track Description

Item Description

More info Track Description

More info Item Description

ENCODE

ENCODE Super-track Settings

ENCODE Track Settings

ENCODE Item Details

ENCODE Tools

ENCODE

ENCODE genomeucsceduENCODE

ENCODE Experiment Matrix

ENCODE ChIP-Seq Matrix

ENCODE Experiment Summary

ENCODE Track Search

AAGGACTGAACTCAGGCAGAGTCCAAGAGTCGCAG

GAAC

CTT

TCGA

TCTCCT

File Formats Scale chr2

GM12878 Ht 2 GM12878 Pk 2

2 kb hg19191876000 191877000 191878000 191879000 191880000 191881000

Basic Gene Annotation Set from GENCODE Version 19

DNaseI Hypersensitivity by Digital DNaseI from ENCODEUniversity of Washington

GM12878 DNaseI HS Raw Signal Rep 2 from ENCODEUW

K562 TFBS Uniform Peaks of Znf143_(16618-1-AP) from ENCODEStanfordAnalysisK562 Znf143 IgG-rab ChIP-seq Peaks from ENCODESYDH K562 Znf143 IgG-rab ChIP-seq Signal from ENCODESYDH

K562 polyA+ IFNa30 RNA-seq Alignments from ENCODESYDH

Exome Aggregation Consortium (ExAC) - Variants from 60706 Exomes

STAT1 STAT1 STAT1 STAT1 STAT1

AG

-

TC CT TC G

CT

GM12878 Sg 2 100 _

1 _

K562 Z143 IgR 40 _

3 _

bitlyfileformatsession

BED

wig(gle)

BAM

VCF

Scalechr2

GM12878 Ht 2GM12878 Pk 2

2 kb191876000 191877000

STAT1STAT1STAT1STAT1STAT1

AGGAAC

CTT-

TCGATCCTTCGAAGGACTGAACTCAGGCAGAGTCCAAGAGTCGCAG

CTTCTCCT

GM12878 Sg 2100 _

1 _

K562 Z143 IgR40 _

3 _

File Formats hg19

191878000 191879000 191880000 191881000Basic Gene Annotation Set from GENCODE Version 19

DNaseI Hypersensitivity by Digital DNaseI from ENCODEUniversity of Washington

GM12878 DNaseI HS Raw Signal Rep 2 from ENCODEUW

K562 TFBS Uniform Peaks of Znf143_(16618-1-AP) from ENCODEStanfordAnalysisK562 Znf143 IgG-rab ChIP-seq Peaks from ENCODESYDH K562 Znf143 IgG-rab ChIP-seq Signal from ENCODESYDH

K562 polyA+ IFNa30 RNA-seq Alignments from ENCODESYDH

Exome Aggregation Consortium (ExAC) - Variants from 60706 Exomes

BED

wig(gle)

BAM

VCF

Positional annotations (ex Regions w enriched ChIP-seq signal for TF binding Δrsquol methylation splice jxns from RNA-seq) Continuous signal data of reads (ex DNase I HS and ChIP-seq signals)

Alignments of seq reads mapped to genome (ex RNA-seq alignments)

Variation data SNPs indels Copy Number Variants Structural Variants (ex ExAC data)

Scalechr2

GM12878 Ht 2GM12878 Pk 2

2 kb191876000 191877000

STAT1STAT1STAT1STAT1STAT1

AGGAAC

CTT-

TCGATCCTTCGAAGGACTGAACTCAGGCAGAGTCCAAGAGTCGCAG

CTTCTCCT

GM12878 Sg 2100 _

1 _

K562 Z143 IgR40 _

3 _

DNaseI Hypersensitivity by Digital DNaseI from ENCODEUniversity of Washington

K562 Znf143 IgG-rab ChIP-seq Peaks from ENCODESYDH

K562 polyA+ IFNa30 RNA-seq Alignments from ENCODESYDH

191879000

Indexed File Formats 191878000

Basic Gene Annotation Set from GENCODE Version 19

GM12878 DNaseI HS Raw Signal Rep 2 from ENCODEUW

K562 TFBS Uniform Peaks of Znf143_(16618-1-AP) from ENCODEStanfordAnalysis

K562 Znf143 IgG-rab ChIP-seq Signal from ENCODESYDH

Exome Aggregation Consortium (ExAC) - Variants from 60706 Exomes

hg19191880000 191881000

BED bigBed

wig(gle) bigWig

BAM

VCF

   

  

Indexed File Formats

bull Only displayed portions of files transferred to UCSC

bull Display large files (would time out) bull File + index on your web-accessible

server (http https or ftp)bull Faster display bull More user control

File Formats

File Formats

File Formats

File Formats wwwencodeprojectorghelpfile-formats

Help File formats

Custom Tracks

Custom Tracks genomeucsceducgi-binhgCustom

Custom Tracks genomeucsceducgi-binhgCustom

track name=rdquoBED_custom_trackrdquo13 chr7 127471196 127472363 Gene1

Annotating your data BED

Tools Data Integrator

Data Integrator genomeucsceducgi-binhgIntegrator

Data Integrator

Data Integrator

httpgenomeucsceducgi-binhgIntegratorhgsid=43297266

1 of 1 62615 320 PM

Data Integrator ct_SYDHTFBS_4733chrom ct_SYDHTFBS_4733chromStart ct_SYDHTFBS_4733chromEnd ct_SYDHTFBS_4733name ct_SYDHTFBS_4733score wgEncodeGencodeBasicV19name wgEncodeGencodeBasicV19name2chr21 33031473 33032186 608 ENST000004493391 AP0002531 chr21 33031473 33032186 608 ENST000002701426 SOD1 chr21 33031473 33032186 608 ENST000003899954 SOD1 chr21 33031473 33032186 608 ENST000004709441 SOD1

       

Annotating your VCF file

1 Make a VCF custom track 2 Go to the Variant Annotation Integrator 3 Choose your track 4 Add annotations

   

Remotely Hosted Custom Tracks bull Put data file (bigBedbigWigBAMVCF etc)

in internet accessible location bull Must have 1 track info 2 bigDataUrl bull VCF example

track type=vcfTabix name=VCF_Example description=VCF Ex 1 1000 Genomes phase 1interim SNVs bigDataUrl= httphgwdevcseucscedu~paulinepresentationsvcfExamplevcfgz

  

Variant Annotation Integrator13

bull Upload pgSnp or VCF custom track13 bull Associate UCSC annotations with your

uploaded variant calls13 bull Add dbSNP info if dbSNP identifier

found13 bull Select custom track and VAI options13

3713

Variant Annotation Integrator13

Tools Variant Annotation Integrator

Variant Annotation Integrator13 genomeucsceducgi-binhgVai

   

  

Track Data Hubs 13

bull Remotely hosted13 bull Data persistence13 bull File formats 13

bigBED bigWig BAM VCF13 bull Track organization 13

groups supertracks13 bull multiWigs13 bull Assembly hubs13

Track Hubs

My Data Track Hubs

Track Hubs genomeucsceducgi-binhgHubConnect

My Data Track Hubs

My Hubs genomeucsceducgi-binhgHubConnect

My Data Track Hubs

   

Make Your Own Track Hub

You will need bull Data (compressed binary index formats

bigBed bigWig BAM VCF) bull Text files to define properties of the

track hub bull Internet-enabled webftp server bull Assembly Hubs

a twoBit sequence file

Track Hubs genomeucsceducgi-binhgHubConnect

My Data Track Hubs

myHub - directory containing track hub files

hubtxt - a short description of hub properties

genomestxt - list of genome assemblies included

hg19 - directory of data for the hg19 human assembly

Data files BAM bigBed bigWig VCF

An Example Assembly Hub

An Arabidopsis hub13 httpgenome-testcseucscedu

~paulinehubsPlantshubtxt13 13

131313

13

1313

     

Acknowledgements UCSC Genome Browser team

ndash David Haussler ndash co-PI ndash Jim Kent ndash Browser Concept BLAT Team Leader PI ndash Bob Kuhn ndash Associate Director Outreach ndash co-PI ndash Donna Karolchik Ann Zweig ndash Project Management

Engineering QA Docs Support Sys-admins

Angie Hinrichs Katrina Learned Jorge Garcia Pauline Fujita Erich Weiler Kate Rosenbloom

Hiram Clawson Luvina Guruvadoo Gary Moro Steve Heitner Galt Barber

Brian Raney Brian Lee

Max Haeussler Jonathan Caspar Matt Speir

THE GB TEAM

UC Santa Cruz Genomics Institute

Funding Sources

National Human Genome Research Institute (NHGRI)

National Cancer Institute (NCI)

National Institute for Dental and Cranio-Facial Research (NIDCR)

National Institute for Child Health and Human Development (NICHD)

QB3 (UCBerkeley UCSF UCSC)

American Recovery and Reinvestment Act (ARRA) stimulus funds

UC Santa Cruz Genomics Institute

genomeucscedu

THANK YOU

UC Santa Cruz Genomics Institute

   

Exercises 1 Load example BED and VCF tracks via url 2 Look at custom track data by pasting url into a

web browser 3 Annotate the TFBS custom track using the Data

Integrator 4 Annotate the VCF custom track using the Variant

Annotation Integrator

   

     

Exercise 1 Load example BED and VCF tracks via url

1 Go to the Custom tracks menu bull My Data -gt Custom Tracks

2 Input this url httpbitlycustomtracks (note that you must include the rdquohttprdquo part of this url or you will get an error) and click [submit]

3 Click the [Go to genome browser] button 4 Once in the main Browser jump to this position

bull chr2133034804-33037719 5 See if you can drag your 2 custom tracks to the top of

the display

Exercise 2 Exploring your BED and VCF tracks

1 Now that you have 2 custom tracks loaded take a look at the data by pasting that same url into a web browser

2 These custom tracks are actually data copied from some existing tracks see if you can find them turn them on and observe that the original tracks and custom tracks look the same in the browser bull Track 1 (BED format) Group (Regulation) Super

Track (ENC TF Binding) Track (SYDH TFBS) bull Track 2 (VCF format) Group (Variation) Track

(1000G Ph1 Vars) 3 Navigate to this position for best comparison (esp for the

VCF track) chr2133034804-33037719

   

   

Exercise 3 Annotate your BED with the Data Integrator

1 Go to the Data Integrator 2 Once there select

1 Region to annotate chr2133031597-33041570 2 Add data source group (custom tracks) track (SYDHhellip) [click

add]3 Now choose which annotations you want to add by [add]ing more

tracks to the list ndash ex 1 Find the genes that overlap with your regions group (Genes and

Gene Prediction) track (GENCODE V19) view (Genes)subtrack (Basic) [add]

2 Find the SNPs that overlap with your regions group (Variation)track (Common SNPs) [add]

Choose which fields to include in your outputOutput options -gt Choose fields [Done] -gt [get output]

   

   

   

Exercise 4 Annotate your VCF with the

Variant Annotation Integrator

1 Go to the Variant Annotation Integratorbull Tools -gt VAI

2 Select Variants bull Variants ldquoVCF Ex 1helliprdquo

3 Now choose which annotations you want to addbull To determine which gene regions your variants fall into select a

gene track (Select Genes = ldquoBasic Gene Annotation SethellipGENCODErdquo)

bull Add regulatory annotations Under ldquoSelect Regulatory Annotationsrdquo click the ldquo+rdquo button to choose which TFs to include (or select none to include all binding sites)

Bonus Material

Where to search genomeucsceducgi-binhgGateway

Where to search genomeucsceducgi-binhgGateway

Where to search Main Browser genomeucsceducgi-binhgTracks

Public Hubs

My Data Track Hubs

Where to search genomeucsceducgi-binhgHubConnect

Track search

Track search

Track search

Page 3: Visualizing ENCODE Data in the UCSC Genome Browser · Variant Annotation Integrator 1. Go to the Variant Annotation Integrator • Tools -> V.A.I. 2. Select Variants: • Variants:

         

Outline

bull Basics search display more info bull Tools for finding ENCODE data bull Annotating a BED file RNAseq example

bull Annotating a VCF file bull Track Hubs What are they How do I

make one bull Exercises

Basic Navigation Main Display genomeucsceducgi-binhgTracksdb=hg19

       

Display Configuration

bull Visibility hide dense squish pack full

bull Track ordering drag and drop

bull Drag and zoomhighlighting bull Configuration page

bull Right click menu

How to find more info

Track Description

Item Description

More info Track Description

More info Item Description

ENCODE

ENCODE Super-track Settings

ENCODE Track Settings

ENCODE Item Details

ENCODE Tools

ENCODE

ENCODE genomeucsceduENCODE

ENCODE Experiment Matrix

ENCODE ChIP-Seq Matrix

ENCODE Experiment Summary

ENCODE Track Search

AAGGACTGAACTCAGGCAGAGTCCAAGAGTCGCAG

GAAC

CTT

TCGA

TCTCCT

File Formats Scale chr2

GM12878 Ht 2 GM12878 Pk 2

2 kb hg19191876000 191877000 191878000 191879000 191880000 191881000

Basic Gene Annotation Set from GENCODE Version 19

DNaseI Hypersensitivity by Digital DNaseI from ENCODEUniversity of Washington

GM12878 DNaseI HS Raw Signal Rep 2 from ENCODEUW

K562 TFBS Uniform Peaks of Znf143_(16618-1-AP) from ENCODEStanfordAnalysisK562 Znf143 IgG-rab ChIP-seq Peaks from ENCODESYDH K562 Znf143 IgG-rab ChIP-seq Signal from ENCODESYDH

K562 polyA+ IFNa30 RNA-seq Alignments from ENCODESYDH

Exome Aggregation Consortium (ExAC) - Variants from 60706 Exomes

STAT1 STAT1 STAT1 STAT1 STAT1

AG

-

TC CT TC G

CT

GM12878 Sg 2 100 _

1 _

K562 Z143 IgR 40 _

3 _

bitlyfileformatsession

BED

wig(gle)

BAM

VCF

Scalechr2

GM12878 Ht 2GM12878 Pk 2

2 kb191876000 191877000

STAT1STAT1STAT1STAT1STAT1

AGGAAC

CTT-

TCGATCCTTCGAAGGACTGAACTCAGGCAGAGTCCAAGAGTCGCAG

CTTCTCCT

GM12878 Sg 2100 _

1 _

K562 Z143 IgR40 _

3 _

File Formats hg19

191878000 191879000 191880000 191881000Basic Gene Annotation Set from GENCODE Version 19

DNaseI Hypersensitivity by Digital DNaseI from ENCODEUniversity of Washington

GM12878 DNaseI HS Raw Signal Rep 2 from ENCODEUW

K562 TFBS Uniform Peaks of Znf143_(16618-1-AP) from ENCODEStanfordAnalysisK562 Znf143 IgG-rab ChIP-seq Peaks from ENCODESYDH K562 Znf143 IgG-rab ChIP-seq Signal from ENCODESYDH

K562 polyA+ IFNa30 RNA-seq Alignments from ENCODESYDH

Exome Aggregation Consortium (ExAC) - Variants from 60706 Exomes

BED

wig(gle)

BAM

VCF

Positional annotations (ex Regions w enriched ChIP-seq signal for TF binding Δrsquol methylation splice jxns from RNA-seq) Continuous signal data of reads (ex DNase I HS and ChIP-seq signals)

Alignments of seq reads mapped to genome (ex RNA-seq alignments)

Variation data SNPs indels Copy Number Variants Structural Variants (ex ExAC data)

Scalechr2

GM12878 Ht 2GM12878 Pk 2

2 kb191876000 191877000

STAT1STAT1STAT1STAT1STAT1

AGGAAC

CTT-

TCGATCCTTCGAAGGACTGAACTCAGGCAGAGTCCAAGAGTCGCAG

CTTCTCCT

GM12878 Sg 2100 _

1 _

K562 Z143 IgR40 _

3 _

DNaseI Hypersensitivity by Digital DNaseI from ENCODEUniversity of Washington

K562 Znf143 IgG-rab ChIP-seq Peaks from ENCODESYDH

K562 polyA+ IFNa30 RNA-seq Alignments from ENCODESYDH

191879000

Indexed File Formats 191878000

Basic Gene Annotation Set from GENCODE Version 19

GM12878 DNaseI HS Raw Signal Rep 2 from ENCODEUW

K562 TFBS Uniform Peaks of Znf143_(16618-1-AP) from ENCODEStanfordAnalysis

K562 Znf143 IgG-rab ChIP-seq Signal from ENCODESYDH

Exome Aggregation Consortium (ExAC) - Variants from 60706 Exomes

hg19191880000 191881000

BED bigBed

wig(gle) bigWig

BAM

VCF

   

  

Indexed File Formats

bull Only displayed portions of files transferred to UCSC

bull Display large files (would time out) bull File + index on your web-accessible

server (http https or ftp)bull Faster display bull More user control

File Formats

File Formats

File Formats

File Formats wwwencodeprojectorghelpfile-formats

Help File formats

Custom Tracks

Custom Tracks genomeucsceducgi-binhgCustom

Custom Tracks genomeucsceducgi-binhgCustom

track name=rdquoBED_custom_trackrdquo13 chr7 127471196 127472363 Gene1

Annotating your data BED

Tools Data Integrator

Data Integrator genomeucsceducgi-binhgIntegrator

Data Integrator

Data Integrator

httpgenomeucsceducgi-binhgIntegratorhgsid=43297266

1 of 1 62615 320 PM

Data Integrator ct_SYDHTFBS_4733chrom ct_SYDHTFBS_4733chromStart ct_SYDHTFBS_4733chromEnd ct_SYDHTFBS_4733name ct_SYDHTFBS_4733score wgEncodeGencodeBasicV19name wgEncodeGencodeBasicV19name2chr21 33031473 33032186 608 ENST000004493391 AP0002531 chr21 33031473 33032186 608 ENST000002701426 SOD1 chr21 33031473 33032186 608 ENST000003899954 SOD1 chr21 33031473 33032186 608 ENST000004709441 SOD1

       

Annotating your VCF file

1 Make a VCF custom track 2 Go to the Variant Annotation Integrator 3 Choose your track 4 Add annotations

   

Remotely Hosted Custom Tracks bull Put data file (bigBedbigWigBAMVCF etc)

in internet accessible location bull Must have 1 track info 2 bigDataUrl bull VCF example

track type=vcfTabix name=VCF_Example description=VCF Ex 1 1000 Genomes phase 1interim SNVs bigDataUrl= httphgwdevcseucscedu~paulinepresentationsvcfExamplevcfgz

  

Variant Annotation Integrator13

bull Upload pgSnp or VCF custom track13 bull Associate UCSC annotations with your

uploaded variant calls13 bull Add dbSNP info if dbSNP identifier

found13 bull Select custom track and VAI options13

3713

Variant Annotation Integrator13

Tools Variant Annotation Integrator

Variant Annotation Integrator13 genomeucsceducgi-binhgVai

   

  

Track Data Hubs 13

bull Remotely hosted13 bull Data persistence13 bull File formats 13

bigBED bigWig BAM VCF13 bull Track organization 13

groups supertracks13 bull multiWigs13 bull Assembly hubs13

Track Hubs

My Data Track Hubs

Track Hubs genomeucsceducgi-binhgHubConnect

My Data Track Hubs

My Hubs genomeucsceducgi-binhgHubConnect

My Data Track Hubs

   

Make Your Own Track Hub

You will need bull Data (compressed binary index formats

bigBed bigWig BAM VCF) bull Text files to define properties of the

track hub bull Internet-enabled webftp server bull Assembly Hubs

a twoBit sequence file

Track Hubs genomeucsceducgi-binhgHubConnect

My Data Track Hubs

myHub - directory containing track hub files

hubtxt - a short description of hub properties

genomestxt - list of genome assemblies included

hg19 - directory of data for the hg19 human assembly

Data files BAM bigBed bigWig VCF

An Example Assembly Hub

An Arabidopsis hub13 httpgenome-testcseucscedu

~paulinehubsPlantshubtxt13 13

131313

13

1313

     

Acknowledgements UCSC Genome Browser team

ndash David Haussler ndash co-PI ndash Jim Kent ndash Browser Concept BLAT Team Leader PI ndash Bob Kuhn ndash Associate Director Outreach ndash co-PI ndash Donna Karolchik Ann Zweig ndash Project Management

Engineering QA Docs Support Sys-admins

Angie Hinrichs Katrina Learned Jorge Garcia Pauline Fujita Erich Weiler Kate Rosenbloom

Hiram Clawson Luvina Guruvadoo Gary Moro Steve Heitner Galt Barber

Brian Raney Brian Lee

Max Haeussler Jonathan Caspar Matt Speir

THE GB TEAM

UC Santa Cruz Genomics Institute

Funding Sources

National Human Genome Research Institute (NHGRI)

National Cancer Institute (NCI)

National Institute for Dental and Cranio-Facial Research (NIDCR)

National Institute for Child Health and Human Development (NICHD)

QB3 (UCBerkeley UCSF UCSC)

American Recovery and Reinvestment Act (ARRA) stimulus funds

UC Santa Cruz Genomics Institute

genomeucscedu

THANK YOU

UC Santa Cruz Genomics Institute

   

Exercises 1 Load example BED and VCF tracks via url 2 Look at custom track data by pasting url into a

web browser 3 Annotate the TFBS custom track using the Data

Integrator 4 Annotate the VCF custom track using the Variant

Annotation Integrator

   

     

Exercise 1 Load example BED and VCF tracks via url

1 Go to the Custom tracks menu bull My Data -gt Custom Tracks

2 Input this url httpbitlycustomtracks (note that you must include the rdquohttprdquo part of this url or you will get an error) and click [submit]

3 Click the [Go to genome browser] button 4 Once in the main Browser jump to this position

bull chr2133034804-33037719 5 See if you can drag your 2 custom tracks to the top of

the display

Exercise 2 Exploring your BED and VCF tracks

1 Now that you have 2 custom tracks loaded take a look at the data by pasting that same url into a web browser

2 These custom tracks are actually data copied from some existing tracks see if you can find them turn them on and observe that the original tracks and custom tracks look the same in the browser bull Track 1 (BED format) Group (Regulation) Super

Track (ENC TF Binding) Track (SYDH TFBS) bull Track 2 (VCF format) Group (Variation) Track

(1000G Ph1 Vars) 3 Navigate to this position for best comparison (esp for the

VCF track) chr2133034804-33037719

   

   

Exercise 3 Annotate your BED with the Data Integrator

1 Go to the Data Integrator 2 Once there select

1 Region to annotate chr2133031597-33041570 2 Add data source group (custom tracks) track (SYDHhellip) [click

add]3 Now choose which annotations you want to add by [add]ing more

tracks to the list ndash ex 1 Find the genes that overlap with your regions group (Genes and

Gene Prediction) track (GENCODE V19) view (Genes)subtrack (Basic) [add]

2 Find the SNPs that overlap with your regions group (Variation)track (Common SNPs) [add]

Choose which fields to include in your outputOutput options -gt Choose fields [Done] -gt [get output]

   

   

   

Exercise 4 Annotate your VCF with the

Variant Annotation Integrator

1 Go to the Variant Annotation Integratorbull Tools -gt VAI

2 Select Variants bull Variants ldquoVCF Ex 1helliprdquo

3 Now choose which annotations you want to addbull To determine which gene regions your variants fall into select a

gene track (Select Genes = ldquoBasic Gene Annotation SethellipGENCODErdquo)

bull Add regulatory annotations Under ldquoSelect Regulatory Annotationsrdquo click the ldquo+rdquo button to choose which TFs to include (or select none to include all binding sites)

Bonus Material

Where to search genomeucsceducgi-binhgGateway

Where to search genomeucsceducgi-binhgGateway

Where to search Main Browser genomeucsceducgi-binhgTracks

Public Hubs

My Data Track Hubs

Where to search genomeucsceducgi-binhgHubConnect

Track search

Track search

Track search

Page 4: Visualizing ENCODE Data in the UCSC Genome Browser · Variant Annotation Integrator 1. Go to the Variant Annotation Integrator • Tools -> V.A.I. 2. Select Variants: • Variants:

Basic Navigation Main Display genomeucsceducgi-binhgTracksdb=hg19

       

Display Configuration

bull Visibility hide dense squish pack full

bull Track ordering drag and drop

bull Drag and zoomhighlighting bull Configuration page

bull Right click menu

How to find more info

Track Description

Item Description

More info Track Description

More info Item Description

ENCODE

ENCODE Super-track Settings

ENCODE Track Settings

ENCODE Item Details

ENCODE Tools

ENCODE

ENCODE genomeucsceduENCODE

ENCODE Experiment Matrix

ENCODE ChIP-Seq Matrix

ENCODE Experiment Summary

ENCODE Track Search

AAGGACTGAACTCAGGCAGAGTCCAAGAGTCGCAG

GAAC

CTT

TCGA

TCTCCT

File Formats Scale chr2

GM12878 Ht 2 GM12878 Pk 2

2 kb hg19191876000 191877000 191878000 191879000 191880000 191881000

Basic Gene Annotation Set from GENCODE Version 19

DNaseI Hypersensitivity by Digital DNaseI from ENCODEUniversity of Washington

GM12878 DNaseI HS Raw Signal Rep 2 from ENCODEUW

K562 TFBS Uniform Peaks of Znf143_(16618-1-AP) from ENCODEStanfordAnalysisK562 Znf143 IgG-rab ChIP-seq Peaks from ENCODESYDH K562 Znf143 IgG-rab ChIP-seq Signal from ENCODESYDH

K562 polyA+ IFNa30 RNA-seq Alignments from ENCODESYDH

Exome Aggregation Consortium (ExAC) - Variants from 60706 Exomes

STAT1 STAT1 STAT1 STAT1 STAT1

AG

-

TC CT TC G

CT

GM12878 Sg 2 100 _

1 _

K562 Z143 IgR 40 _

3 _

bitlyfileformatsession

BED

wig(gle)

BAM

VCF

Scalechr2

GM12878 Ht 2GM12878 Pk 2

2 kb191876000 191877000

STAT1STAT1STAT1STAT1STAT1

AGGAAC

CTT-

TCGATCCTTCGAAGGACTGAACTCAGGCAGAGTCCAAGAGTCGCAG

CTTCTCCT

GM12878 Sg 2100 _

1 _

K562 Z143 IgR40 _

3 _

File Formats hg19

191878000 191879000 191880000 191881000Basic Gene Annotation Set from GENCODE Version 19

DNaseI Hypersensitivity by Digital DNaseI from ENCODEUniversity of Washington

GM12878 DNaseI HS Raw Signal Rep 2 from ENCODEUW

K562 TFBS Uniform Peaks of Znf143_(16618-1-AP) from ENCODEStanfordAnalysisK562 Znf143 IgG-rab ChIP-seq Peaks from ENCODESYDH K562 Znf143 IgG-rab ChIP-seq Signal from ENCODESYDH

K562 polyA+ IFNa30 RNA-seq Alignments from ENCODESYDH

Exome Aggregation Consortium (ExAC) - Variants from 60706 Exomes

BED

wig(gle)

BAM

VCF

Positional annotations (ex Regions w enriched ChIP-seq signal for TF binding Δrsquol methylation splice jxns from RNA-seq) Continuous signal data of reads (ex DNase I HS and ChIP-seq signals)

Alignments of seq reads mapped to genome (ex RNA-seq alignments)

Variation data SNPs indels Copy Number Variants Structural Variants (ex ExAC data)

Scalechr2

GM12878 Ht 2GM12878 Pk 2

2 kb191876000 191877000

STAT1STAT1STAT1STAT1STAT1

AGGAAC

CTT-

TCGATCCTTCGAAGGACTGAACTCAGGCAGAGTCCAAGAGTCGCAG

CTTCTCCT

GM12878 Sg 2100 _

1 _

K562 Z143 IgR40 _

3 _

DNaseI Hypersensitivity by Digital DNaseI from ENCODEUniversity of Washington

K562 Znf143 IgG-rab ChIP-seq Peaks from ENCODESYDH

K562 polyA+ IFNa30 RNA-seq Alignments from ENCODESYDH

191879000

Indexed File Formats 191878000

Basic Gene Annotation Set from GENCODE Version 19

GM12878 DNaseI HS Raw Signal Rep 2 from ENCODEUW

K562 TFBS Uniform Peaks of Znf143_(16618-1-AP) from ENCODEStanfordAnalysis

K562 Znf143 IgG-rab ChIP-seq Signal from ENCODESYDH

Exome Aggregation Consortium (ExAC) - Variants from 60706 Exomes

hg19191880000 191881000

BED bigBed

wig(gle) bigWig

BAM

VCF

   

  

Indexed File Formats

bull Only displayed portions of files transferred to UCSC

bull Display large files (would time out) bull File + index on your web-accessible

server (http https or ftp)bull Faster display bull More user control

File Formats

File Formats

File Formats

File Formats wwwencodeprojectorghelpfile-formats

Help File formats

Custom Tracks

Custom Tracks genomeucsceducgi-binhgCustom

Custom Tracks genomeucsceducgi-binhgCustom

track name=rdquoBED_custom_trackrdquo13 chr7 127471196 127472363 Gene1

Annotating your data BED

Tools Data Integrator

Data Integrator genomeucsceducgi-binhgIntegrator

Data Integrator

Data Integrator

httpgenomeucsceducgi-binhgIntegratorhgsid=43297266

1 of 1 62615 320 PM

Data Integrator ct_SYDHTFBS_4733chrom ct_SYDHTFBS_4733chromStart ct_SYDHTFBS_4733chromEnd ct_SYDHTFBS_4733name ct_SYDHTFBS_4733score wgEncodeGencodeBasicV19name wgEncodeGencodeBasicV19name2chr21 33031473 33032186 608 ENST000004493391 AP0002531 chr21 33031473 33032186 608 ENST000002701426 SOD1 chr21 33031473 33032186 608 ENST000003899954 SOD1 chr21 33031473 33032186 608 ENST000004709441 SOD1

       

Annotating your VCF file

1 Make a VCF custom track 2 Go to the Variant Annotation Integrator 3 Choose your track 4 Add annotations

   

Remotely Hosted Custom Tracks bull Put data file (bigBedbigWigBAMVCF etc)

in internet accessible location bull Must have 1 track info 2 bigDataUrl bull VCF example

track type=vcfTabix name=VCF_Example description=VCF Ex 1 1000 Genomes phase 1interim SNVs bigDataUrl= httphgwdevcseucscedu~paulinepresentationsvcfExamplevcfgz

  

Variant Annotation Integrator13

bull Upload pgSnp or VCF custom track13 bull Associate UCSC annotations with your

uploaded variant calls13 bull Add dbSNP info if dbSNP identifier

found13 bull Select custom track and VAI options13

3713

Variant Annotation Integrator13

Tools Variant Annotation Integrator

Variant Annotation Integrator13 genomeucsceducgi-binhgVai

   

  

Track Data Hubs 13

bull Remotely hosted13 bull Data persistence13 bull File formats 13

bigBED bigWig BAM VCF13 bull Track organization 13

groups supertracks13 bull multiWigs13 bull Assembly hubs13

Track Hubs

My Data Track Hubs

Track Hubs genomeucsceducgi-binhgHubConnect

My Data Track Hubs

My Hubs genomeucsceducgi-binhgHubConnect

My Data Track Hubs

   

Make Your Own Track Hub

You will need bull Data (compressed binary index formats

bigBed bigWig BAM VCF) bull Text files to define properties of the

track hub bull Internet-enabled webftp server bull Assembly Hubs

a twoBit sequence file

Track Hubs genomeucsceducgi-binhgHubConnect

My Data Track Hubs

myHub - directory containing track hub files

hubtxt - a short description of hub properties

genomestxt - list of genome assemblies included

hg19 - directory of data for the hg19 human assembly

Data files BAM bigBed bigWig VCF

An Example Assembly Hub

An Arabidopsis hub13 httpgenome-testcseucscedu

~paulinehubsPlantshubtxt13 13

131313

13

1313

     

Acknowledgements UCSC Genome Browser team

ndash David Haussler ndash co-PI ndash Jim Kent ndash Browser Concept BLAT Team Leader PI ndash Bob Kuhn ndash Associate Director Outreach ndash co-PI ndash Donna Karolchik Ann Zweig ndash Project Management

Engineering QA Docs Support Sys-admins

Angie Hinrichs Katrina Learned Jorge Garcia Pauline Fujita Erich Weiler Kate Rosenbloom

Hiram Clawson Luvina Guruvadoo Gary Moro Steve Heitner Galt Barber

Brian Raney Brian Lee

Max Haeussler Jonathan Caspar Matt Speir

THE GB TEAM

UC Santa Cruz Genomics Institute

Funding Sources

National Human Genome Research Institute (NHGRI)

National Cancer Institute (NCI)

National Institute for Dental and Cranio-Facial Research (NIDCR)

National Institute for Child Health and Human Development (NICHD)

QB3 (UCBerkeley UCSF UCSC)

American Recovery and Reinvestment Act (ARRA) stimulus funds

UC Santa Cruz Genomics Institute

genomeucscedu

THANK YOU

UC Santa Cruz Genomics Institute

   

Exercises 1 Load example BED and VCF tracks via url 2 Look at custom track data by pasting url into a

web browser 3 Annotate the TFBS custom track using the Data

Integrator 4 Annotate the VCF custom track using the Variant

Annotation Integrator

   

     

Exercise 1 Load example BED and VCF tracks via url

1 Go to the Custom tracks menu bull My Data -gt Custom Tracks

2 Input this url httpbitlycustomtracks (note that you must include the rdquohttprdquo part of this url or you will get an error) and click [submit]

3 Click the [Go to genome browser] button 4 Once in the main Browser jump to this position

bull chr2133034804-33037719 5 See if you can drag your 2 custom tracks to the top of

the display

Exercise 2 Exploring your BED and VCF tracks

1 Now that you have 2 custom tracks loaded take a look at the data by pasting that same url into a web browser

2 These custom tracks are actually data copied from some existing tracks see if you can find them turn them on and observe that the original tracks and custom tracks look the same in the browser bull Track 1 (BED format) Group (Regulation) Super

Track (ENC TF Binding) Track (SYDH TFBS) bull Track 2 (VCF format) Group (Variation) Track

(1000G Ph1 Vars) 3 Navigate to this position for best comparison (esp for the

VCF track) chr2133034804-33037719

   

   

Exercise 3 Annotate your BED with the Data Integrator

1 Go to the Data Integrator 2 Once there select

1 Region to annotate chr2133031597-33041570 2 Add data source group (custom tracks) track (SYDHhellip) [click

add]3 Now choose which annotations you want to add by [add]ing more

tracks to the list ndash ex 1 Find the genes that overlap with your regions group (Genes and

Gene Prediction) track (GENCODE V19) view (Genes)subtrack (Basic) [add]

2 Find the SNPs that overlap with your regions group (Variation)track (Common SNPs) [add]

Choose which fields to include in your outputOutput options -gt Choose fields [Done] -gt [get output]

   

   

   

Exercise 4 Annotate your VCF with the

Variant Annotation Integrator

1 Go to the Variant Annotation Integratorbull Tools -gt VAI

2 Select Variants bull Variants ldquoVCF Ex 1helliprdquo

3 Now choose which annotations you want to addbull To determine which gene regions your variants fall into select a

gene track (Select Genes = ldquoBasic Gene Annotation SethellipGENCODErdquo)

bull Add regulatory annotations Under ldquoSelect Regulatory Annotationsrdquo click the ldquo+rdquo button to choose which TFs to include (or select none to include all binding sites)

Bonus Material

Where to search genomeucsceducgi-binhgGateway

Where to search genomeucsceducgi-binhgGateway

Where to search Main Browser genomeucsceducgi-binhgTracks

Public Hubs

My Data Track Hubs

Where to search genomeucsceducgi-binhgHubConnect

Track search

Track search

Track search

Page 5: Visualizing ENCODE Data in the UCSC Genome Browser · Variant Annotation Integrator 1. Go to the Variant Annotation Integrator • Tools -> V.A.I. 2. Select Variants: • Variants:

       

Display Configuration

bull Visibility hide dense squish pack full

bull Track ordering drag and drop

bull Drag and zoomhighlighting bull Configuration page

bull Right click menu

How to find more info

Track Description

Item Description

More info Track Description

More info Item Description

ENCODE

ENCODE Super-track Settings

ENCODE Track Settings

ENCODE Item Details

ENCODE Tools

ENCODE

ENCODE genomeucsceduENCODE

ENCODE Experiment Matrix

ENCODE ChIP-Seq Matrix

ENCODE Experiment Summary

ENCODE Track Search

AAGGACTGAACTCAGGCAGAGTCCAAGAGTCGCAG

GAAC

CTT

TCGA

TCTCCT

File Formats Scale chr2

GM12878 Ht 2 GM12878 Pk 2

2 kb hg19191876000 191877000 191878000 191879000 191880000 191881000

Basic Gene Annotation Set from GENCODE Version 19

DNaseI Hypersensitivity by Digital DNaseI from ENCODEUniversity of Washington

GM12878 DNaseI HS Raw Signal Rep 2 from ENCODEUW

K562 TFBS Uniform Peaks of Znf143_(16618-1-AP) from ENCODEStanfordAnalysisK562 Znf143 IgG-rab ChIP-seq Peaks from ENCODESYDH K562 Znf143 IgG-rab ChIP-seq Signal from ENCODESYDH

K562 polyA+ IFNa30 RNA-seq Alignments from ENCODESYDH

Exome Aggregation Consortium (ExAC) - Variants from 60706 Exomes

STAT1 STAT1 STAT1 STAT1 STAT1

AG

-

TC CT TC G

CT

GM12878 Sg 2 100 _

1 _

K562 Z143 IgR 40 _

3 _

bitlyfileformatsession

BED

wig(gle)

BAM

VCF

Scalechr2

GM12878 Ht 2GM12878 Pk 2

2 kb191876000 191877000

STAT1STAT1STAT1STAT1STAT1

AGGAAC

CTT-

TCGATCCTTCGAAGGACTGAACTCAGGCAGAGTCCAAGAGTCGCAG

CTTCTCCT

GM12878 Sg 2100 _

1 _

K562 Z143 IgR40 _

3 _

File Formats hg19

191878000 191879000 191880000 191881000Basic Gene Annotation Set from GENCODE Version 19

DNaseI Hypersensitivity by Digital DNaseI from ENCODEUniversity of Washington

GM12878 DNaseI HS Raw Signal Rep 2 from ENCODEUW

K562 TFBS Uniform Peaks of Znf143_(16618-1-AP) from ENCODEStanfordAnalysisK562 Znf143 IgG-rab ChIP-seq Peaks from ENCODESYDH K562 Znf143 IgG-rab ChIP-seq Signal from ENCODESYDH

K562 polyA+ IFNa30 RNA-seq Alignments from ENCODESYDH

Exome Aggregation Consortium (ExAC) - Variants from 60706 Exomes

BED

wig(gle)

BAM

VCF

Positional annotations (ex Regions w enriched ChIP-seq signal for TF binding Δrsquol methylation splice jxns from RNA-seq) Continuous signal data of reads (ex DNase I HS and ChIP-seq signals)

Alignments of seq reads mapped to genome (ex RNA-seq alignments)

Variation data SNPs indels Copy Number Variants Structural Variants (ex ExAC data)

Scalechr2

GM12878 Ht 2GM12878 Pk 2

2 kb191876000 191877000

STAT1STAT1STAT1STAT1STAT1

AGGAAC

CTT-

TCGATCCTTCGAAGGACTGAACTCAGGCAGAGTCCAAGAGTCGCAG

CTTCTCCT

GM12878 Sg 2100 _

1 _

K562 Z143 IgR40 _

3 _

DNaseI Hypersensitivity by Digital DNaseI from ENCODEUniversity of Washington

K562 Znf143 IgG-rab ChIP-seq Peaks from ENCODESYDH

K562 polyA+ IFNa30 RNA-seq Alignments from ENCODESYDH

191879000

Indexed File Formats 191878000

Basic Gene Annotation Set from GENCODE Version 19

GM12878 DNaseI HS Raw Signal Rep 2 from ENCODEUW

K562 TFBS Uniform Peaks of Znf143_(16618-1-AP) from ENCODEStanfordAnalysis

K562 Znf143 IgG-rab ChIP-seq Signal from ENCODESYDH

Exome Aggregation Consortium (ExAC) - Variants from 60706 Exomes

hg19191880000 191881000

BED bigBed

wig(gle) bigWig

BAM

VCF

   

  

Indexed File Formats

bull Only displayed portions of files transferred to UCSC

bull Display large files (would time out) bull File + index on your web-accessible

server (http https or ftp)bull Faster display bull More user control

File Formats

File Formats

File Formats

File Formats wwwencodeprojectorghelpfile-formats

Help File formats

Custom Tracks

Custom Tracks genomeucsceducgi-binhgCustom

Custom Tracks genomeucsceducgi-binhgCustom

track name=rdquoBED_custom_trackrdquo13 chr7 127471196 127472363 Gene1

Annotating your data BED

Tools Data Integrator

Data Integrator genomeucsceducgi-binhgIntegrator

Data Integrator

Data Integrator

httpgenomeucsceducgi-binhgIntegratorhgsid=43297266

1 of 1 62615 320 PM

Data Integrator ct_SYDHTFBS_4733chrom ct_SYDHTFBS_4733chromStart ct_SYDHTFBS_4733chromEnd ct_SYDHTFBS_4733name ct_SYDHTFBS_4733score wgEncodeGencodeBasicV19name wgEncodeGencodeBasicV19name2chr21 33031473 33032186 608 ENST000004493391 AP0002531 chr21 33031473 33032186 608 ENST000002701426 SOD1 chr21 33031473 33032186 608 ENST000003899954 SOD1 chr21 33031473 33032186 608 ENST000004709441 SOD1

       

Annotating your VCF file

1 Make a VCF custom track 2 Go to the Variant Annotation Integrator 3 Choose your track 4 Add annotations

   

Remotely Hosted Custom Tracks bull Put data file (bigBedbigWigBAMVCF etc)

in internet accessible location bull Must have 1 track info 2 bigDataUrl bull VCF example

track type=vcfTabix name=VCF_Example description=VCF Ex 1 1000 Genomes phase 1interim SNVs bigDataUrl= httphgwdevcseucscedu~paulinepresentationsvcfExamplevcfgz

  

Variant Annotation Integrator13

bull Upload pgSnp or VCF custom track13 bull Associate UCSC annotations with your

uploaded variant calls13 bull Add dbSNP info if dbSNP identifier

found13 bull Select custom track and VAI options13

3713

Variant Annotation Integrator13

Tools Variant Annotation Integrator

Variant Annotation Integrator13 genomeucsceducgi-binhgVai

   

  

Track Data Hubs 13

bull Remotely hosted13 bull Data persistence13 bull File formats 13

bigBED bigWig BAM VCF13 bull Track organization 13

groups supertracks13 bull multiWigs13 bull Assembly hubs13

Track Hubs

My Data Track Hubs

Track Hubs genomeucsceducgi-binhgHubConnect

My Data Track Hubs

My Hubs genomeucsceducgi-binhgHubConnect

My Data Track Hubs

   

Make Your Own Track Hub

You will need bull Data (compressed binary index formats

bigBed bigWig BAM VCF) bull Text files to define properties of the

track hub bull Internet-enabled webftp server bull Assembly Hubs

a twoBit sequence file

Track Hubs genomeucsceducgi-binhgHubConnect

My Data Track Hubs

myHub - directory containing track hub files

hubtxt - a short description of hub properties

genomestxt - list of genome assemblies included

hg19 - directory of data for the hg19 human assembly

Data files BAM bigBed bigWig VCF

An Example Assembly Hub

An Arabidopsis hub13 httpgenome-testcseucscedu

~paulinehubsPlantshubtxt13 13

131313

13

1313

     

Acknowledgements UCSC Genome Browser team

ndash David Haussler ndash co-PI ndash Jim Kent ndash Browser Concept BLAT Team Leader PI ndash Bob Kuhn ndash Associate Director Outreach ndash co-PI ndash Donna Karolchik Ann Zweig ndash Project Management

Engineering QA Docs Support Sys-admins

Angie Hinrichs Katrina Learned Jorge Garcia Pauline Fujita Erich Weiler Kate Rosenbloom

Hiram Clawson Luvina Guruvadoo Gary Moro Steve Heitner Galt Barber

Brian Raney Brian Lee

Max Haeussler Jonathan Caspar Matt Speir

THE GB TEAM

UC Santa Cruz Genomics Institute

Funding Sources

National Human Genome Research Institute (NHGRI)

National Cancer Institute (NCI)

National Institute for Dental and Cranio-Facial Research (NIDCR)

National Institute for Child Health and Human Development (NICHD)

QB3 (UCBerkeley UCSF UCSC)

American Recovery and Reinvestment Act (ARRA) stimulus funds

UC Santa Cruz Genomics Institute

genomeucscedu

THANK YOU

UC Santa Cruz Genomics Institute

   

Exercises 1 Load example BED and VCF tracks via url 2 Look at custom track data by pasting url into a

web browser 3 Annotate the TFBS custom track using the Data

Integrator 4 Annotate the VCF custom track using the Variant

Annotation Integrator

   

     

Exercise 1 Load example BED and VCF tracks via url

1 Go to the Custom tracks menu bull My Data -gt Custom Tracks

2 Input this url httpbitlycustomtracks (note that you must include the rdquohttprdquo part of this url or you will get an error) and click [submit]

3 Click the [Go to genome browser] button 4 Once in the main Browser jump to this position

bull chr2133034804-33037719 5 See if you can drag your 2 custom tracks to the top of

the display

Exercise 2 Exploring your BED and VCF tracks

1 Now that you have 2 custom tracks loaded take a look at the data by pasting that same url into a web browser

2 These custom tracks are actually data copied from some existing tracks see if you can find them turn them on and observe that the original tracks and custom tracks look the same in the browser bull Track 1 (BED format) Group (Regulation) Super

Track (ENC TF Binding) Track (SYDH TFBS) bull Track 2 (VCF format) Group (Variation) Track

(1000G Ph1 Vars) 3 Navigate to this position for best comparison (esp for the

VCF track) chr2133034804-33037719

   

   

Exercise 3 Annotate your BED with the Data Integrator

1 Go to the Data Integrator 2 Once there select

1 Region to annotate chr2133031597-33041570 2 Add data source group (custom tracks) track (SYDHhellip) [click

add]3 Now choose which annotations you want to add by [add]ing more

tracks to the list ndash ex 1 Find the genes that overlap with your regions group (Genes and

Gene Prediction) track (GENCODE V19) view (Genes)subtrack (Basic) [add]

2 Find the SNPs that overlap with your regions group (Variation)track (Common SNPs) [add]

Choose which fields to include in your outputOutput options -gt Choose fields [Done] -gt [get output]

   

   

   

Exercise 4 Annotate your VCF with the

Variant Annotation Integrator

1 Go to the Variant Annotation Integratorbull Tools -gt VAI

2 Select Variants bull Variants ldquoVCF Ex 1helliprdquo

3 Now choose which annotations you want to addbull To determine which gene regions your variants fall into select a

gene track (Select Genes = ldquoBasic Gene Annotation SethellipGENCODErdquo)

bull Add regulatory annotations Under ldquoSelect Regulatory Annotationsrdquo click the ldquo+rdquo button to choose which TFs to include (or select none to include all binding sites)

Bonus Material

Where to search genomeucsceducgi-binhgGateway

Where to search genomeucsceducgi-binhgGateway

Where to search Main Browser genomeucsceducgi-binhgTracks

Public Hubs

My Data Track Hubs

Where to search genomeucsceducgi-binhgHubConnect

Track search

Track search

Track search

Page 6: Visualizing ENCODE Data in the UCSC Genome Browser · Variant Annotation Integrator 1. Go to the Variant Annotation Integrator • Tools -> V.A.I. 2. Select Variants: • Variants:

How to find more info

Track Description

Item Description

More info Track Description

More info Item Description

ENCODE

ENCODE Super-track Settings

ENCODE Track Settings

ENCODE Item Details

ENCODE Tools

ENCODE

ENCODE genomeucsceduENCODE

ENCODE Experiment Matrix

ENCODE ChIP-Seq Matrix

ENCODE Experiment Summary

ENCODE Track Search

AAGGACTGAACTCAGGCAGAGTCCAAGAGTCGCAG

GAAC

CTT

TCGA

TCTCCT

File Formats Scale chr2

GM12878 Ht 2 GM12878 Pk 2

2 kb hg19191876000 191877000 191878000 191879000 191880000 191881000

Basic Gene Annotation Set from GENCODE Version 19

DNaseI Hypersensitivity by Digital DNaseI from ENCODEUniversity of Washington

GM12878 DNaseI HS Raw Signal Rep 2 from ENCODEUW

K562 TFBS Uniform Peaks of Znf143_(16618-1-AP) from ENCODEStanfordAnalysisK562 Znf143 IgG-rab ChIP-seq Peaks from ENCODESYDH K562 Znf143 IgG-rab ChIP-seq Signal from ENCODESYDH

K562 polyA+ IFNa30 RNA-seq Alignments from ENCODESYDH

Exome Aggregation Consortium (ExAC) - Variants from 60706 Exomes

STAT1 STAT1 STAT1 STAT1 STAT1

AG

-

TC CT TC G

CT

GM12878 Sg 2 100 _

1 _

K562 Z143 IgR 40 _

3 _

bitlyfileformatsession

BED

wig(gle)

BAM

VCF

Scalechr2

GM12878 Ht 2GM12878 Pk 2

2 kb191876000 191877000

STAT1STAT1STAT1STAT1STAT1

AGGAAC

CTT-

TCGATCCTTCGAAGGACTGAACTCAGGCAGAGTCCAAGAGTCGCAG

CTTCTCCT

GM12878 Sg 2100 _

1 _

K562 Z143 IgR40 _

3 _

File Formats hg19

191878000 191879000 191880000 191881000Basic Gene Annotation Set from GENCODE Version 19

DNaseI Hypersensitivity by Digital DNaseI from ENCODEUniversity of Washington

GM12878 DNaseI HS Raw Signal Rep 2 from ENCODEUW

K562 TFBS Uniform Peaks of Znf143_(16618-1-AP) from ENCODEStanfordAnalysisK562 Znf143 IgG-rab ChIP-seq Peaks from ENCODESYDH K562 Znf143 IgG-rab ChIP-seq Signal from ENCODESYDH

K562 polyA+ IFNa30 RNA-seq Alignments from ENCODESYDH

Exome Aggregation Consortium (ExAC) - Variants from 60706 Exomes

BED

wig(gle)

BAM

VCF

Positional annotations (ex Regions w enriched ChIP-seq signal for TF binding Δrsquol methylation splice jxns from RNA-seq) Continuous signal data of reads (ex DNase I HS and ChIP-seq signals)

Alignments of seq reads mapped to genome (ex RNA-seq alignments)

Variation data SNPs indels Copy Number Variants Structural Variants (ex ExAC data)

Scalechr2

GM12878 Ht 2GM12878 Pk 2

2 kb191876000 191877000

STAT1STAT1STAT1STAT1STAT1

AGGAAC

CTT-

TCGATCCTTCGAAGGACTGAACTCAGGCAGAGTCCAAGAGTCGCAG

CTTCTCCT

GM12878 Sg 2100 _

1 _

K562 Z143 IgR40 _

3 _

DNaseI Hypersensitivity by Digital DNaseI from ENCODEUniversity of Washington

K562 Znf143 IgG-rab ChIP-seq Peaks from ENCODESYDH

K562 polyA+ IFNa30 RNA-seq Alignments from ENCODESYDH

191879000

Indexed File Formats 191878000

Basic Gene Annotation Set from GENCODE Version 19

GM12878 DNaseI HS Raw Signal Rep 2 from ENCODEUW

K562 TFBS Uniform Peaks of Znf143_(16618-1-AP) from ENCODEStanfordAnalysis

K562 Znf143 IgG-rab ChIP-seq Signal from ENCODESYDH

Exome Aggregation Consortium (ExAC) - Variants from 60706 Exomes

hg19191880000 191881000

BED bigBed

wig(gle) bigWig

BAM

VCF

   

  

Indexed File Formats

bull Only displayed portions of files transferred to UCSC

bull Display large files (would time out) bull File + index on your web-accessible

server (http https or ftp)bull Faster display bull More user control

File Formats

File Formats

File Formats

File Formats wwwencodeprojectorghelpfile-formats

Help File formats

Custom Tracks

Custom Tracks genomeucsceducgi-binhgCustom

Custom Tracks genomeucsceducgi-binhgCustom

track name=rdquoBED_custom_trackrdquo13 chr7 127471196 127472363 Gene1

Annotating your data BED

Tools Data Integrator

Data Integrator genomeucsceducgi-binhgIntegrator

Data Integrator

Data Integrator

httpgenomeucsceducgi-binhgIntegratorhgsid=43297266

1 of 1 62615 320 PM

Data Integrator ct_SYDHTFBS_4733chrom ct_SYDHTFBS_4733chromStart ct_SYDHTFBS_4733chromEnd ct_SYDHTFBS_4733name ct_SYDHTFBS_4733score wgEncodeGencodeBasicV19name wgEncodeGencodeBasicV19name2chr21 33031473 33032186 608 ENST000004493391 AP0002531 chr21 33031473 33032186 608 ENST000002701426 SOD1 chr21 33031473 33032186 608 ENST000003899954 SOD1 chr21 33031473 33032186 608 ENST000004709441 SOD1

       

Annotating your VCF file

1 Make a VCF custom track 2 Go to the Variant Annotation Integrator 3 Choose your track 4 Add annotations

   

Remotely Hosted Custom Tracks bull Put data file (bigBedbigWigBAMVCF etc)

in internet accessible location bull Must have 1 track info 2 bigDataUrl bull VCF example

track type=vcfTabix name=VCF_Example description=VCF Ex 1 1000 Genomes phase 1interim SNVs bigDataUrl= httphgwdevcseucscedu~paulinepresentationsvcfExamplevcfgz

  

Variant Annotation Integrator13

bull Upload pgSnp or VCF custom track13 bull Associate UCSC annotations with your

uploaded variant calls13 bull Add dbSNP info if dbSNP identifier

found13 bull Select custom track and VAI options13

3713

Variant Annotation Integrator13

Tools Variant Annotation Integrator

Variant Annotation Integrator13 genomeucsceducgi-binhgVai

   

  

Track Data Hubs 13

bull Remotely hosted13 bull Data persistence13 bull File formats 13

bigBED bigWig BAM VCF13 bull Track organization 13

groups supertracks13 bull multiWigs13 bull Assembly hubs13

Track Hubs

My Data Track Hubs

Track Hubs genomeucsceducgi-binhgHubConnect

My Data Track Hubs

My Hubs genomeucsceducgi-binhgHubConnect

My Data Track Hubs

   

Make Your Own Track Hub

You will need bull Data (compressed binary index formats

bigBed bigWig BAM VCF) bull Text files to define properties of the

track hub bull Internet-enabled webftp server bull Assembly Hubs

a twoBit sequence file

Track Hubs genomeucsceducgi-binhgHubConnect

My Data Track Hubs

myHub - directory containing track hub files

hubtxt - a short description of hub properties

genomestxt - list of genome assemblies included

hg19 - directory of data for the hg19 human assembly

Data files BAM bigBed bigWig VCF

An Example Assembly Hub

An Arabidopsis hub13 httpgenome-testcseucscedu

~paulinehubsPlantshubtxt13 13

131313

13

1313

     

Acknowledgements UCSC Genome Browser team

ndash David Haussler ndash co-PI ndash Jim Kent ndash Browser Concept BLAT Team Leader PI ndash Bob Kuhn ndash Associate Director Outreach ndash co-PI ndash Donna Karolchik Ann Zweig ndash Project Management

Engineering QA Docs Support Sys-admins

Angie Hinrichs Katrina Learned Jorge Garcia Pauline Fujita Erich Weiler Kate Rosenbloom

Hiram Clawson Luvina Guruvadoo Gary Moro Steve Heitner Galt Barber

Brian Raney Brian Lee

Max Haeussler Jonathan Caspar Matt Speir

THE GB TEAM

UC Santa Cruz Genomics Institute

Funding Sources

National Human Genome Research Institute (NHGRI)

National Cancer Institute (NCI)

National Institute for Dental and Cranio-Facial Research (NIDCR)

National Institute for Child Health and Human Development (NICHD)

QB3 (UCBerkeley UCSF UCSC)

American Recovery and Reinvestment Act (ARRA) stimulus funds

UC Santa Cruz Genomics Institute

genomeucscedu

THANK YOU

UC Santa Cruz Genomics Institute

   

Exercises 1 Load example BED and VCF tracks via url 2 Look at custom track data by pasting url into a

web browser 3 Annotate the TFBS custom track using the Data

Integrator 4 Annotate the VCF custom track using the Variant

Annotation Integrator

   

     

Exercise 1 Load example BED and VCF tracks via url

1 Go to the Custom tracks menu bull My Data -gt Custom Tracks

2 Input this url httpbitlycustomtracks (note that you must include the rdquohttprdquo part of this url or you will get an error) and click [submit]

3 Click the [Go to genome browser] button 4 Once in the main Browser jump to this position

bull chr2133034804-33037719 5 See if you can drag your 2 custom tracks to the top of

the display

Exercise 2 Exploring your BED and VCF tracks

1 Now that you have 2 custom tracks loaded take a look at the data by pasting that same url into a web browser

2 These custom tracks are actually data copied from some existing tracks see if you can find them turn them on and observe that the original tracks and custom tracks look the same in the browser bull Track 1 (BED format) Group (Regulation) Super

Track (ENC TF Binding) Track (SYDH TFBS) bull Track 2 (VCF format) Group (Variation) Track

(1000G Ph1 Vars) 3 Navigate to this position for best comparison (esp for the

VCF track) chr2133034804-33037719

   

   

Exercise 3 Annotate your BED with the Data Integrator

1 Go to the Data Integrator 2 Once there select

1 Region to annotate chr2133031597-33041570 2 Add data source group (custom tracks) track (SYDHhellip) [click

add]3 Now choose which annotations you want to add by [add]ing more

tracks to the list ndash ex 1 Find the genes that overlap with your regions group (Genes and

Gene Prediction) track (GENCODE V19) view (Genes)subtrack (Basic) [add]

2 Find the SNPs that overlap with your regions group (Variation)track (Common SNPs) [add]

Choose which fields to include in your outputOutput options -gt Choose fields [Done] -gt [get output]

   

   

   

Exercise 4 Annotate your VCF with the

Variant Annotation Integrator

1 Go to the Variant Annotation Integratorbull Tools -gt VAI

2 Select Variants bull Variants ldquoVCF Ex 1helliprdquo

3 Now choose which annotations you want to addbull To determine which gene regions your variants fall into select a

gene track (Select Genes = ldquoBasic Gene Annotation SethellipGENCODErdquo)

bull Add regulatory annotations Under ldquoSelect Regulatory Annotationsrdquo click the ldquo+rdquo button to choose which TFs to include (or select none to include all binding sites)

Bonus Material

Where to search genomeucsceducgi-binhgGateway

Where to search genomeucsceducgi-binhgGateway

Where to search Main Browser genomeucsceducgi-binhgTracks

Public Hubs

My Data Track Hubs

Where to search genomeucsceducgi-binhgHubConnect

Track search

Track search

Track search

Page 7: Visualizing ENCODE Data in the UCSC Genome Browser · Variant Annotation Integrator 1. Go to the Variant Annotation Integrator • Tools -> V.A.I. 2. Select Variants: • Variants:

More info Track Description

More info Item Description

ENCODE

ENCODE Super-track Settings

ENCODE Track Settings

ENCODE Item Details

ENCODE Tools

ENCODE

ENCODE genomeucsceduENCODE

ENCODE Experiment Matrix

ENCODE ChIP-Seq Matrix

ENCODE Experiment Summary

ENCODE Track Search

AAGGACTGAACTCAGGCAGAGTCCAAGAGTCGCAG

GAAC

CTT

TCGA

TCTCCT

File Formats Scale chr2

GM12878 Ht 2 GM12878 Pk 2

2 kb hg19191876000 191877000 191878000 191879000 191880000 191881000

Basic Gene Annotation Set from GENCODE Version 19

DNaseI Hypersensitivity by Digital DNaseI from ENCODEUniversity of Washington

GM12878 DNaseI HS Raw Signal Rep 2 from ENCODEUW

K562 TFBS Uniform Peaks of Znf143_(16618-1-AP) from ENCODEStanfordAnalysisK562 Znf143 IgG-rab ChIP-seq Peaks from ENCODESYDH K562 Znf143 IgG-rab ChIP-seq Signal from ENCODESYDH

K562 polyA+ IFNa30 RNA-seq Alignments from ENCODESYDH

Exome Aggregation Consortium (ExAC) - Variants from 60706 Exomes

STAT1 STAT1 STAT1 STAT1 STAT1

AG

-

TC CT TC G

CT

GM12878 Sg 2 100 _

1 _

K562 Z143 IgR 40 _

3 _

bitlyfileformatsession

BED

wig(gle)

BAM

VCF

Scalechr2

GM12878 Ht 2GM12878 Pk 2

2 kb191876000 191877000

STAT1STAT1STAT1STAT1STAT1

AGGAAC

CTT-

TCGATCCTTCGAAGGACTGAACTCAGGCAGAGTCCAAGAGTCGCAG

CTTCTCCT

GM12878 Sg 2100 _

1 _

K562 Z143 IgR40 _

3 _

File Formats hg19

191878000 191879000 191880000 191881000Basic Gene Annotation Set from GENCODE Version 19

DNaseI Hypersensitivity by Digital DNaseI from ENCODEUniversity of Washington

GM12878 DNaseI HS Raw Signal Rep 2 from ENCODEUW

K562 TFBS Uniform Peaks of Znf143_(16618-1-AP) from ENCODEStanfordAnalysisK562 Znf143 IgG-rab ChIP-seq Peaks from ENCODESYDH K562 Znf143 IgG-rab ChIP-seq Signal from ENCODESYDH

K562 polyA+ IFNa30 RNA-seq Alignments from ENCODESYDH

Exome Aggregation Consortium (ExAC) - Variants from 60706 Exomes

BED

wig(gle)

BAM

VCF

Positional annotations (ex Regions w enriched ChIP-seq signal for TF binding Δrsquol methylation splice jxns from RNA-seq) Continuous signal data of reads (ex DNase I HS and ChIP-seq signals)

Alignments of seq reads mapped to genome (ex RNA-seq alignments)

Variation data SNPs indels Copy Number Variants Structural Variants (ex ExAC data)

Scalechr2

GM12878 Ht 2GM12878 Pk 2

2 kb191876000 191877000

STAT1STAT1STAT1STAT1STAT1

AGGAAC

CTT-

TCGATCCTTCGAAGGACTGAACTCAGGCAGAGTCCAAGAGTCGCAG

CTTCTCCT

GM12878 Sg 2100 _

1 _

K562 Z143 IgR40 _

3 _

DNaseI Hypersensitivity by Digital DNaseI from ENCODEUniversity of Washington

K562 Znf143 IgG-rab ChIP-seq Peaks from ENCODESYDH

K562 polyA+ IFNa30 RNA-seq Alignments from ENCODESYDH

191879000

Indexed File Formats 191878000

Basic Gene Annotation Set from GENCODE Version 19

GM12878 DNaseI HS Raw Signal Rep 2 from ENCODEUW

K562 TFBS Uniform Peaks of Znf143_(16618-1-AP) from ENCODEStanfordAnalysis

K562 Znf143 IgG-rab ChIP-seq Signal from ENCODESYDH

Exome Aggregation Consortium (ExAC) - Variants from 60706 Exomes

hg19191880000 191881000

BED bigBed

wig(gle) bigWig

BAM

VCF

   

  

Indexed File Formats

bull Only displayed portions of files transferred to UCSC

bull Display large files (would time out) bull File + index on your web-accessible

server (http https or ftp)bull Faster display bull More user control

File Formats

File Formats

File Formats

File Formats wwwencodeprojectorghelpfile-formats

Help File formats

Custom Tracks

Custom Tracks genomeucsceducgi-binhgCustom

Custom Tracks genomeucsceducgi-binhgCustom

track name=rdquoBED_custom_trackrdquo13 chr7 127471196 127472363 Gene1

Annotating your data BED

Tools Data Integrator

Data Integrator genomeucsceducgi-binhgIntegrator

Data Integrator

Data Integrator

httpgenomeucsceducgi-binhgIntegratorhgsid=43297266

1 of 1 62615 320 PM

Data Integrator ct_SYDHTFBS_4733chrom ct_SYDHTFBS_4733chromStart ct_SYDHTFBS_4733chromEnd ct_SYDHTFBS_4733name ct_SYDHTFBS_4733score wgEncodeGencodeBasicV19name wgEncodeGencodeBasicV19name2chr21 33031473 33032186 608 ENST000004493391 AP0002531 chr21 33031473 33032186 608 ENST000002701426 SOD1 chr21 33031473 33032186 608 ENST000003899954 SOD1 chr21 33031473 33032186 608 ENST000004709441 SOD1

       

Annotating your VCF file

1 Make a VCF custom track 2 Go to the Variant Annotation Integrator 3 Choose your track 4 Add annotations

   

Remotely Hosted Custom Tracks bull Put data file (bigBedbigWigBAMVCF etc)

in internet accessible location bull Must have 1 track info 2 bigDataUrl bull VCF example

track type=vcfTabix name=VCF_Example description=VCF Ex 1 1000 Genomes phase 1interim SNVs bigDataUrl= httphgwdevcseucscedu~paulinepresentationsvcfExamplevcfgz

  

Variant Annotation Integrator13

bull Upload pgSnp or VCF custom track13 bull Associate UCSC annotations with your

uploaded variant calls13 bull Add dbSNP info if dbSNP identifier

found13 bull Select custom track and VAI options13

3713

Variant Annotation Integrator13

Tools Variant Annotation Integrator

Variant Annotation Integrator13 genomeucsceducgi-binhgVai

   

  

Track Data Hubs 13

bull Remotely hosted13 bull Data persistence13 bull File formats 13

bigBED bigWig BAM VCF13 bull Track organization 13

groups supertracks13 bull multiWigs13 bull Assembly hubs13

Track Hubs

My Data Track Hubs

Track Hubs genomeucsceducgi-binhgHubConnect

My Data Track Hubs

My Hubs genomeucsceducgi-binhgHubConnect

My Data Track Hubs

   

Make Your Own Track Hub

You will need bull Data (compressed binary index formats

bigBed bigWig BAM VCF) bull Text files to define properties of the

track hub bull Internet-enabled webftp server bull Assembly Hubs

a twoBit sequence file

Track Hubs genomeucsceducgi-binhgHubConnect

My Data Track Hubs

myHub - directory containing track hub files

hubtxt - a short description of hub properties

genomestxt - list of genome assemblies included

hg19 - directory of data for the hg19 human assembly

Data files BAM bigBed bigWig VCF

An Example Assembly Hub

An Arabidopsis hub13 httpgenome-testcseucscedu

~paulinehubsPlantshubtxt13 13

131313

13

1313

     

Acknowledgements UCSC Genome Browser team

ndash David Haussler ndash co-PI ndash Jim Kent ndash Browser Concept BLAT Team Leader PI ndash Bob Kuhn ndash Associate Director Outreach ndash co-PI ndash Donna Karolchik Ann Zweig ndash Project Management

Engineering QA Docs Support Sys-admins

Angie Hinrichs Katrina Learned Jorge Garcia Pauline Fujita Erich Weiler Kate Rosenbloom

Hiram Clawson Luvina Guruvadoo Gary Moro Steve Heitner Galt Barber

Brian Raney Brian Lee

Max Haeussler Jonathan Caspar Matt Speir

THE GB TEAM

UC Santa Cruz Genomics Institute

Funding Sources

National Human Genome Research Institute (NHGRI)

National Cancer Institute (NCI)

National Institute for Dental and Cranio-Facial Research (NIDCR)

National Institute for Child Health and Human Development (NICHD)

QB3 (UCBerkeley UCSF UCSC)

American Recovery and Reinvestment Act (ARRA) stimulus funds

UC Santa Cruz Genomics Institute

genomeucscedu

THANK YOU

UC Santa Cruz Genomics Institute

   

Exercises 1 Load example BED and VCF tracks via url 2 Look at custom track data by pasting url into a

web browser 3 Annotate the TFBS custom track using the Data

Integrator 4 Annotate the VCF custom track using the Variant

Annotation Integrator

   

     

Exercise 1 Load example BED and VCF tracks via url

1 Go to the Custom tracks menu bull My Data -gt Custom Tracks

2 Input this url httpbitlycustomtracks (note that you must include the rdquohttprdquo part of this url or you will get an error) and click [submit]

3 Click the [Go to genome browser] button 4 Once in the main Browser jump to this position

bull chr2133034804-33037719 5 See if you can drag your 2 custom tracks to the top of

the display

Exercise 2 Exploring your BED and VCF tracks

1 Now that you have 2 custom tracks loaded take a look at the data by pasting that same url into a web browser

2 These custom tracks are actually data copied from some existing tracks see if you can find them turn them on and observe that the original tracks and custom tracks look the same in the browser bull Track 1 (BED format) Group (Regulation) Super

Track (ENC TF Binding) Track (SYDH TFBS) bull Track 2 (VCF format) Group (Variation) Track

(1000G Ph1 Vars) 3 Navigate to this position for best comparison (esp for the

VCF track) chr2133034804-33037719

   

   

Exercise 3 Annotate your BED with the Data Integrator

1 Go to the Data Integrator 2 Once there select

1 Region to annotate chr2133031597-33041570 2 Add data source group (custom tracks) track (SYDHhellip) [click

add]3 Now choose which annotations you want to add by [add]ing more

tracks to the list ndash ex 1 Find the genes that overlap with your regions group (Genes and

Gene Prediction) track (GENCODE V19) view (Genes)subtrack (Basic) [add]

2 Find the SNPs that overlap with your regions group (Variation)track (Common SNPs) [add]

Choose which fields to include in your outputOutput options -gt Choose fields [Done] -gt [get output]

   

   

   

Exercise 4 Annotate your VCF with the

Variant Annotation Integrator

1 Go to the Variant Annotation Integratorbull Tools -gt VAI

2 Select Variants bull Variants ldquoVCF Ex 1helliprdquo

3 Now choose which annotations you want to addbull To determine which gene regions your variants fall into select a

gene track (Select Genes = ldquoBasic Gene Annotation SethellipGENCODErdquo)

bull Add regulatory annotations Under ldquoSelect Regulatory Annotationsrdquo click the ldquo+rdquo button to choose which TFs to include (or select none to include all binding sites)

Bonus Material

Where to search genomeucsceducgi-binhgGateway

Where to search genomeucsceducgi-binhgGateway

Where to search Main Browser genomeucsceducgi-binhgTracks

Public Hubs

My Data Track Hubs

Where to search genomeucsceducgi-binhgHubConnect

Track search

Track search

Track search

Page 8: Visualizing ENCODE Data in the UCSC Genome Browser · Variant Annotation Integrator 1. Go to the Variant Annotation Integrator • Tools -> V.A.I. 2. Select Variants: • Variants:

More info Item Description

ENCODE

ENCODE Super-track Settings

ENCODE Track Settings

ENCODE Item Details

ENCODE Tools

ENCODE

ENCODE genomeucsceduENCODE

ENCODE Experiment Matrix

ENCODE ChIP-Seq Matrix

ENCODE Experiment Summary

ENCODE Track Search

AAGGACTGAACTCAGGCAGAGTCCAAGAGTCGCAG

GAAC

CTT

TCGA

TCTCCT

File Formats Scale chr2

GM12878 Ht 2 GM12878 Pk 2

2 kb hg19191876000 191877000 191878000 191879000 191880000 191881000

Basic Gene Annotation Set from GENCODE Version 19

DNaseI Hypersensitivity by Digital DNaseI from ENCODEUniversity of Washington

GM12878 DNaseI HS Raw Signal Rep 2 from ENCODEUW

K562 TFBS Uniform Peaks of Znf143_(16618-1-AP) from ENCODEStanfordAnalysisK562 Znf143 IgG-rab ChIP-seq Peaks from ENCODESYDH K562 Znf143 IgG-rab ChIP-seq Signal from ENCODESYDH

K562 polyA+ IFNa30 RNA-seq Alignments from ENCODESYDH

Exome Aggregation Consortium (ExAC) - Variants from 60706 Exomes

STAT1 STAT1 STAT1 STAT1 STAT1

AG

-

TC CT TC G

CT

GM12878 Sg 2 100 _

1 _

K562 Z143 IgR 40 _

3 _

bitlyfileformatsession

BED

wig(gle)

BAM

VCF

Scalechr2

GM12878 Ht 2GM12878 Pk 2

2 kb191876000 191877000

STAT1STAT1STAT1STAT1STAT1

AGGAAC

CTT-

TCGATCCTTCGAAGGACTGAACTCAGGCAGAGTCCAAGAGTCGCAG

CTTCTCCT

GM12878 Sg 2100 _

1 _

K562 Z143 IgR40 _

3 _

File Formats hg19

191878000 191879000 191880000 191881000Basic Gene Annotation Set from GENCODE Version 19

DNaseI Hypersensitivity by Digital DNaseI from ENCODEUniversity of Washington

GM12878 DNaseI HS Raw Signal Rep 2 from ENCODEUW

K562 TFBS Uniform Peaks of Znf143_(16618-1-AP) from ENCODEStanfordAnalysisK562 Znf143 IgG-rab ChIP-seq Peaks from ENCODESYDH K562 Znf143 IgG-rab ChIP-seq Signal from ENCODESYDH

K562 polyA+ IFNa30 RNA-seq Alignments from ENCODESYDH

Exome Aggregation Consortium (ExAC) - Variants from 60706 Exomes

BED

wig(gle)

BAM

VCF

Positional annotations (ex Regions w enriched ChIP-seq signal for TF binding Δrsquol methylation splice jxns from RNA-seq) Continuous signal data of reads (ex DNase I HS and ChIP-seq signals)

Alignments of seq reads mapped to genome (ex RNA-seq alignments)

Variation data SNPs indels Copy Number Variants Structural Variants (ex ExAC data)

Scalechr2

GM12878 Ht 2GM12878 Pk 2

2 kb191876000 191877000

STAT1STAT1STAT1STAT1STAT1

AGGAAC

CTT-

TCGATCCTTCGAAGGACTGAACTCAGGCAGAGTCCAAGAGTCGCAG

CTTCTCCT

GM12878 Sg 2100 _

1 _

K562 Z143 IgR40 _

3 _

DNaseI Hypersensitivity by Digital DNaseI from ENCODEUniversity of Washington

K562 Znf143 IgG-rab ChIP-seq Peaks from ENCODESYDH

K562 polyA+ IFNa30 RNA-seq Alignments from ENCODESYDH

191879000

Indexed File Formats 191878000

Basic Gene Annotation Set from GENCODE Version 19

GM12878 DNaseI HS Raw Signal Rep 2 from ENCODEUW

K562 TFBS Uniform Peaks of Znf143_(16618-1-AP) from ENCODEStanfordAnalysis

K562 Znf143 IgG-rab ChIP-seq Signal from ENCODESYDH

Exome Aggregation Consortium (ExAC) - Variants from 60706 Exomes

hg19191880000 191881000

BED bigBed

wig(gle) bigWig

BAM

VCF

   

  

Indexed File Formats

bull Only displayed portions of files transferred to UCSC

bull Display large files (would time out) bull File + index on your web-accessible

server (http https or ftp)bull Faster display bull More user control

File Formats

File Formats

File Formats

File Formats wwwencodeprojectorghelpfile-formats

Help File formats

Custom Tracks

Custom Tracks genomeucsceducgi-binhgCustom

Custom Tracks genomeucsceducgi-binhgCustom

track name=rdquoBED_custom_trackrdquo13 chr7 127471196 127472363 Gene1

Annotating your data BED

Tools Data Integrator

Data Integrator genomeucsceducgi-binhgIntegrator

Data Integrator

Data Integrator

httpgenomeucsceducgi-binhgIntegratorhgsid=43297266

1 of 1 62615 320 PM

Data Integrator ct_SYDHTFBS_4733chrom ct_SYDHTFBS_4733chromStart ct_SYDHTFBS_4733chromEnd ct_SYDHTFBS_4733name ct_SYDHTFBS_4733score wgEncodeGencodeBasicV19name wgEncodeGencodeBasicV19name2chr21 33031473 33032186 608 ENST000004493391 AP0002531 chr21 33031473 33032186 608 ENST000002701426 SOD1 chr21 33031473 33032186 608 ENST000003899954 SOD1 chr21 33031473 33032186 608 ENST000004709441 SOD1

       

Annotating your VCF file

1 Make a VCF custom track 2 Go to the Variant Annotation Integrator 3 Choose your track 4 Add annotations

   

Remotely Hosted Custom Tracks bull Put data file (bigBedbigWigBAMVCF etc)

in internet accessible location bull Must have 1 track info 2 bigDataUrl bull VCF example

track type=vcfTabix name=VCF_Example description=VCF Ex 1 1000 Genomes phase 1interim SNVs bigDataUrl= httphgwdevcseucscedu~paulinepresentationsvcfExamplevcfgz

  

Variant Annotation Integrator13

bull Upload pgSnp or VCF custom track13 bull Associate UCSC annotations with your

uploaded variant calls13 bull Add dbSNP info if dbSNP identifier

found13 bull Select custom track and VAI options13

3713

Variant Annotation Integrator13

Tools Variant Annotation Integrator

Variant Annotation Integrator13 genomeucsceducgi-binhgVai

   

  

Track Data Hubs 13

bull Remotely hosted13 bull Data persistence13 bull File formats 13

bigBED bigWig BAM VCF13 bull Track organization 13

groups supertracks13 bull multiWigs13 bull Assembly hubs13

Track Hubs

My Data Track Hubs

Track Hubs genomeucsceducgi-binhgHubConnect

My Data Track Hubs

My Hubs genomeucsceducgi-binhgHubConnect

My Data Track Hubs

   

Make Your Own Track Hub

You will need bull Data (compressed binary index formats

bigBed bigWig BAM VCF) bull Text files to define properties of the

track hub bull Internet-enabled webftp server bull Assembly Hubs

a twoBit sequence file

Track Hubs genomeucsceducgi-binhgHubConnect

My Data Track Hubs

myHub - directory containing track hub files

hubtxt - a short description of hub properties

genomestxt - list of genome assemblies included

hg19 - directory of data for the hg19 human assembly

Data files BAM bigBed bigWig VCF

An Example Assembly Hub

An Arabidopsis hub13 httpgenome-testcseucscedu

~paulinehubsPlantshubtxt13 13

131313

13

1313

     

Acknowledgements UCSC Genome Browser team

ndash David Haussler ndash co-PI ndash Jim Kent ndash Browser Concept BLAT Team Leader PI ndash Bob Kuhn ndash Associate Director Outreach ndash co-PI ndash Donna Karolchik Ann Zweig ndash Project Management

Engineering QA Docs Support Sys-admins

Angie Hinrichs Katrina Learned Jorge Garcia Pauline Fujita Erich Weiler Kate Rosenbloom

Hiram Clawson Luvina Guruvadoo Gary Moro Steve Heitner Galt Barber

Brian Raney Brian Lee

Max Haeussler Jonathan Caspar Matt Speir

THE GB TEAM

UC Santa Cruz Genomics Institute

Funding Sources

National Human Genome Research Institute (NHGRI)

National Cancer Institute (NCI)

National Institute for Dental and Cranio-Facial Research (NIDCR)

National Institute for Child Health and Human Development (NICHD)

QB3 (UCBerkeley UCSF UCSC)

American Recovery and Reinvestment Act (ARRA) stimulus funds

UC Santa Cruz Genomics Institute

genomeucscedu

THANK YOU

UC Santa Cruz Genomics Institute

   

Exercises 1 Load example BED and VCF tracks via url 2 Look at custom track data by pasting url into a

web browser 3 Annotate the TFBS custom track using the Data

Integrator 4 Annotate the VCF custom track using the Variant

Annotation Integrator

   

     

Exercise 1 Load example BED and VCF tracks via url

1 Go to the Custom tracks menu bull My Data -gt Custom Tracks

2 Input this url httpbitlycustomtracks (note that you must include the rdquohttprdquo part of this url or you will get an error) and click [submit]

3 Click the [Go to genome browser] button 4 Once in the main Browser jump to this position

bull chr2133034804-33037719 5 See if you can drag your 2 custom tracks to the top of

the display

Exercise 2 Exploring your BED and VCF tracks

1 Now that you have 2 custom tracks loaded take a look at the data by pasting that same url into a web browser

2 These custom tracks are actually data copied from some existing tracks see if you can find them turn them on and observe that the original tracks and custom tracks look the same in the browser bull Track 1 (BED format) Group (Regulation) Super

Track (ENC TF Binding) Track (SYDH TFBS) bull Track 2 (VCF format) Group (Variation) Track

(1000G Ph1 Vars) 3 Navigate to this position for best comparison (esp for the

VCF track) chr2133034804-33037719

   

   

Exercise 3 Annotate your BED with the Data Integrator

1 Go to the Data Integrator 2 Once there select

1 Region to annotate chr2133031597-33041570 2 Add data source group (custom tracks) track (SYDHhellip) [click

add]3 Now choose which annotations you want to add by [add]ing more

tracks to the list ndash ex 1 Find the genes that overlap with your regions group (Genes and

Gene Prediction) track (GENCODE V19) view (Genes)subtrack (Basic) [add]

2 Find the SNPs that overlap with your regions group (Variation)track (Common SNPs) [add]

Choose which fields to include in your outputOutput options -gt Choose fields [Done] -gt [get output]

   

   

   

Exercise 4 Annotate your VCF with the

Variant Annotation Integrator

1 Go to the Variant Annotation Integratorbull Tools -gt VAI

2 Select Variants bull Variants ldquoVCF Ex 1helliprdquo

3 Now choose which annotations you want to addbull To determine which gene regions your variants fall into select a

gene track (Select Genes = ldquoBasic Gene Annotation SethellipGENCODErdquo)

bull Add regulatory annotations Under ldquoSelect Regulatory Annotationsrdquo click the ldquo+rdquo button to choose which TFs to include (or select none to include all binding sites)

Bonus Material

Where to search genomeucsceducgi-binhgGateway

Where to search genomeucsceducgi-binhgGateway

Where to search Main Browser genomeucsceducgi-binhgTracks

Public Hubs

My Data Track Hubs

Where to search genomeucsceducgi-binhgHubConnect

Track search

Track search

Track search

Page 9: Visualizing ENCODE Data in the UCSC Genome Browser · Variant Annotation Integrator 1. Go to the Variant Annotation Integrator • Tools -> V.A.I. 2. Select Variants: • Variants:

ENCODE

ENCODE Super-track Settings

ENCODE Track Settings

ENCODE Item Details

ENCODE Tools

ENCODE

ENCODE genomeucsceduENCODE

ENCODE Experiment Matrix

ENCODE ChIP-Seq Matrix

ENCODE Experiment Summary

ENCODE Track Search

AAGGACTGAACTCAGGCAGAGTCCAAGAGTCGCAG

GAAC

CTT

TCGA

TCTCCT

File Formats Scale chr2

GM12878 Ht 2 GM12878 Pk 2

2 kb hg19191876000 191877000 191878000 191879000 191880000 191881000

Basic Gene Annotation Set from GENCODE Version 19

DNaseI Hypersensitivity by Digital DNaseI from ENCODEUniversity of Washington

GM12878 DNaseI HS Raw Signal Rep 2 from ENCODEUW

K562 TFBS Uniform Peaks of Znf143_(16618-1-AP) from ENCODEStanfordAnalysisK562 Znf143 IgG-rab ChIP-seq Peaks from ENCODESYDH K562 Znf143 IgG-rab ChIP-seq Signal from ENCODESYDH

K562 polyA+ IFNa30 RNA-seq Alignments from ENCODESYDH

Exome Aggregation Consortium (ExAC) - Variants from 60706 Exomes

STAT1 STAT1 STAT1 STAT1 STAT1

AG

-

TC CT TC G

CT

GM12878 Sg 2 100 _

1 _

K562 Z143 IgR 40 _

3 _

bitlyfileformatsession

BED

wig(gle)

BAM

VCF

Scalechr2

GM12878 Ht 2GM12878 Pk 2

2 kb191876000 191877000

STAT1STAT1STAT1STAT1STAT1

AGGAAC

CTT-

TCGATCCTTCGAAGGACTGAACTCAGGCAGAGTCCAAGAGTCGCAG

CTTCTCCT

GM12878 Sg 2100 _

1 _

K562 Z143 IgR40 _

3 _

File Formats hg19

191878000 191879000 191880000 191881000Basic Gene Annotation Set from GENCODE Version 19

DNaseI Hypersensitivity by Digital DNaseI from ENCODEUniversity of Washington

GM12878 DNaseI HS Raw Signal Rep 2 from ENCODEUW

K562 TFBS Uniform Peaks of Znf143_(16618-1-AP) from ENCODEStanfordAnalysisK562 Znf143 IgG-rab ChIP-seq Peaks from ENCODESYDH K562 Znf143 IgG-rab ChIP-seq Signal from ENCODESYDH

K562 polyA+ IFNa30 RNA-seq Alignments from ENCODESYDH

Exome Aggregation Consortium (ExAC) - Variants from 60706 Exomes

BED

wig(gle)

BAM

VCF

Positional annotations (ex Regions w enriched ChIP-seq signal for TF binding Δrsquol methylation splice jxns from RNA-seq) Continuous signal data of reads (ex DNase I HS and ChIP-seq signals)

Alignments of seq reads mapped to genome (ex RNA-seq alignments)

Variation data SNPs indels Copy Number Variants Structural Variants (ex ExAC data)

Scalechr2

GM12878 Ht 2GM12878 Pk 2

2 kb191876000 191877000

STAT1STAT1STAT1STAT1STAT1

AGGAAC

CTT-

TCGATCCTTCGAAGGACTGAACTCAGGCAGAGTCCAAGAGTCGCAG

CTTCTCCT

GM12878 Sg 2100 _

1 _

K562 Z143 IgR40 _

3 _

DNaseI Hypersensitivity by Digital DNaseI from ENCODEUniversity of Washington

K562 Znf143 IgG-rab ChIP-seq Peaks from ENCODESYDH

K562 polyA+ IFNa30 RNA-seq Alignments from ENCODESYDH

191879000

Indexed File Formats 191878000

Basic Gene Annotation Set from GENCODE Version 19

GM12878 DNaseI HS Raw Signal Rep 2 from ENCODEUW

K562 TFBS Uniform Peaks of Znf143_(16618-1-AP) from ENCODEStanfordAnalysis

K562 Znf143 IgG-rab ChIP-seq Signal from ENCODESYDH

Exome Aggregation Consortium (ExAC) - Variants from 60706 Exomes

hg19191880000 191881000

BED bigBed

wig(gle) bigWig

BAM

VCF

   

  

Indexed File Formats

bull Only displayed portions of files transferred to UCSC

bull Display large files (would time out) bull File + index on your web-accessible

server (http https or ftp)bull Faster display bull More user control

File Formats

File Formats

File Formats

File Formats wwwencodeprojectorghelpfile-formats

Help File formats

Custom Tracks

Custom Tracks genomeucsceducgi-binhgCustom

Custom Tracks genomeucsceducgi-binhgCustom

track name=rdquoBED_custom_trackrdquo13 chr7 127471196 127472363 Gene1

Annotating your data BED

Tools Data Integrator

Data Integrator genomeucsceducgi-binhgIntegrator

Data Integrator

Data Integrator

httpgenomeucsceducgi-binhgIntegratorhgsid=43297266

1 of 1 62615 320 PM

Data Integrator ct_SYDHTFBS_4733chrom ct_SYDHTFBS_4733chromStart ct_SYDHTFBS_4733chromEnd ct_SYDHTFBS_4733name ct_SYDHTFBS_4733score wgEncodeGencodeBasicV19name wgEncodeGencodeBasicV19name2chr21 33031473 33032186 608 ENST000004493391 AP0002531 chr21 33031473 33032186 608 ENST000002701426 SOD1 chr21 33031473 33032186 608 ENST000003899954 SOD1 chr21 33031473 33032186 608 ENST000004709441 SOD1

       

Annotating your VCF file

1 Make a VCF custom track 2 Go to the Variant Annotation Integrator 3 Choose your track 4 Add annotations

   

Remotely Hosted Custom Tracks bull Put data file (bigBedbigWigBAMVCF etc)

in internet accessible location bull Must have 1 track info 2 bigDataUrl bull VCF example

track type=vcfTabix name=VCF_Example description=VCF Ex 1 1000 Genomes phase 1interim SNVs bigDataUrl= httphgwdevcseucscedu~paulinepresentationsvcfExamplevcfgz

  

Variant Annotation Integrator13

bull Upload pgSnp or VCF custom track13 bull Associate UCSC annotations with your

uploaded variant calls13 bull Add dbSNP info if dbSNP identifier

found13 bull Select custom track and VAI options13

3713

Variant Annotation Integrator13

Tools Variant Annotation Integrator

Variant Annotation Integrator13 genomeucsceducgi-binhgVai

   

  

Track Data Hubs 13

bull Remotely hosted13 bull Data persistence13 bull File formats 13

bigBED bigWig BAM VCF13 bull Track organization 13

groups supertracks13 bull multiWigs13 bull Assembly hubs13

Track Hubs

My Data Track Hubs

Track Hubs genomeucsceducgi-binhgHubConnect

My Data Track Hubs

My Hubs genomeucsceducgi-binhgHubConnect

My Data Track Hubs

   

Make Your Own Track Hub

You will need bull Data (compressed binary index formats

bigBed bigWig BAM VCF) bull Text files to define properties of the

track hub bull Internet-enabled webftp server bull Assembly Hubs

a twoBit sequence file

Track Hubs genomeucsceducgi-binhgHubConnect

My Data Track Hubs

myHub - directory containing track hub files

hubtxt - a short description of hub properties

genomestxt - list of genome assemblies included

hg19 - directory of data for the hg19 human assembly

Data files BAM bigBed bigWig VCF

An Example Assembly Hub

An Arabidopsis hub13 httpgenome-testcseucscedu

~paulinehubsPlantshubtxt13 13

131313

13

1313

     

Acknowledgements UCSC Genome Browser team

ndash David Haussler ndash co-PI ndash Jim Kent ndash Browser Concept BLAT Team Leader PI ndash Bob Kuhn ndash Associate Director Outreach ndash co-PI ndash Donna Karolchik Ann Zweig ndash Project Management

Engineering QA Docs Support Sys-admins

Angie Hinrichs Katrina Learned Jorge Garcia Pauline Fujita Erich Weiler Kate Rosenbloom

Hiram Clawson Luvina Guruvadoo Gary Moro Steve Heitner Galt Barber

Brian Raney Brian Lee

Max Haeussler Jonathan Caspar Matt Speir

THE GB TEAM

UC Santa Cruz Genomics Institute

Funding Sources

National Human Genome Research Institute (NHGRI)

National Cancer Institute (NCI)

National Institute for Dental and Cranio-Facial Research (NIDCR)

National Institute for Child Health and Human Development (NICHD)

QB3 (UCBerkeley UCSF UCSC)

American Recovery and Reinvestment Act (ARRA) stimulus funds

UC Santa Cruz Genomics Institute

genomeucscedu

THANK YOU

UC Santa Cruz Genomics Institute

   

Exercises 1 Load example BED and VCF tracks via url 2 Look at custom track data by pasting url into a

web browser 3 Annotate the TFBS custom track using the Data

Integrator 4 Annotate the VCF custom track using the Variant

Annotation Integrator

   

     

Exercise 1 Load example BED and VCF tracks via url

1 Go to the Custom tracks menu bull My Data -gt Custom Tracks

2 Input this url httpbitlycustomtracks (note that you must include the rdquohttprdquo part of this url or you will get an error) and click [submit]

3 Click the [Go to genome browser] button 4 Once in the main Browser jump to this position

bull chr2133034804-33037719 5 See if you can drag your 2 custom tracks to the top of

the display

Exercise 2 Exploring your BED and VCF tracks

1 Now that you have 2 custom tracks loaded take a look at the data by pasting that same url into a web browser

2 These custom tracks are actually data copied from some existing tracks see if you can find them turn them on and observe that the original tracks and custom tracks look the same in the browser bull Track 1 (BED format) Group (Regulation) Super

Track (ENC TF Binding) Track (SYDH TFBS) bull Track 2 (VCF format) Group (Variation) Track

(1000G Ph1 Vars) 3 Navigate to this position for best comparison (esp for the

VCF track) chr2133034804-33037719

   

   

Exercise 3 Annotate your BED with the Data Integrator

1 Go to the Data Integrator 2 Once there select

1 Region to annotate chr2133031597-33041570 2 Add data source group (custom tracks) track (SYDHhellip) [click

add]3 Now choose which annotations you want to add by [add]ing more

tracks to the list ndash ex 1 Find the genes that overlap with your regions group (Genes and

Gene Prediction) track (GENCODE V19) view (Genes)subtrack (Basic) [add]

2 Find the SNPs that overlap with your regions group (Variation)track (Common SNPs) [add]

Choose which fields to include in your outputOutput options -gt Choose fields [Done] -gt [get output]

   

   

   

Exercise 4 Annotate your VCF with the

Variant Annotation Integrator

1 Go to the Variant Annotation Integratorbull Tools -gt VAI

2 Select Variants bull Variants ldquoVCF Ex 1helliprdquo

3 Now choose which annotations you want to addbull To determine which gene regions your variants fall into select a

gene track (Select Genes = ldquoBasic Gene Annotation SethellipGENCODErdquo)

bull Add regulatory annotations Under ldquoSelect Regulatory Annotationsrdquo click the ldquo+rdquo button to choose which TFs to include (or select none to include all binding sites)

Bonus Material

Where to search genomeucsceducgi-binhgGateway

Where to search genomeucsceducgi-binhgGateway

Where to search Main Browser genomeucsceducgi-binhgTracks

Public Hubs

My Data Track Hubs

Where to search genomeucsceducgi-binhgHubConnect

Track search

Track search

Track search

Page 10: Visualizing ENCODE Data in the UCSC Genome Browser · Variant Annotation Integrator 1. Go to the Variant Annotation Integrator • Tools -> V.A.I. 2. Select Variants: • Variants:

ENCODE Super-track Settings

ENCODE Track Settings

ENCODE Item Details

ENCODE Tools

ENCODE

ENCODE genomeucsceduENCODE

ENCODE Experiment Matrix

ENCODE ChIP-Seq Matrix

ENCODE Experiment Summary

ENCODE Track Search

AAGGACTGAACTCAGGCAGAGTCCAAGAGTCGCAG

GAAC

CTT

TCGA

TCTCCT

File Formats Scale chr2

GM12878 Ht 2 GM12878 Pk 2

2 kb hg19191876000 191877000 191878000 191879000 191880000 191881000

Basic Gene Annotation Set from GENCODE Version 19

DNaseI Hypersensitivity by Digital DNaseI from ENCODEUniversity of Washington

GM12878 DNaseI HS Raw Signal Rep 2 from ENCODEUW

K562 TFBS Uniform Peaks of Znf143_(16618-1-AP) from ENCODEStanfordAnalysisK562 Znf143 IgG-rab ChIP-seq Peaks from ENCODESYDH K562 Znf143 IgG-rab ChIP-seq Signal from ENCODESYDH

K562 polyA+ IFNa30 RNA-seq Alignments from ENCODESYDH

Exome Aggregation Consortium (ExAC) - Variants from 60706 Exomes

STAT1 STAT1 STAT1 STAT1 STAT1

AG

-

TC CT TC G

CT

GM12878 Sg 2 100 _

1 _

K562 Z143 IgR 40 _

3 _

bitlyfileformatsession

BED

wig(gle)

BAM

VCF

Scalechr2

GM12878 Ht 2GM12878 Pk 2

2 kb191876000 191877000

STAT1STAT1STAT1STAT1STAT1

AGGAAC

CTT-

TCGATCCTTCGAAGGACTGAACTCAGGCAGAGTCCAAGAGTCGCAG

CTTCTCCT

GM12878 Sg 2100 _

1 _

K562 Z143 IgR40 _

3 _

File Formats hg19

191878000 191879000 191880000 191881000Basic Gene Annotation Set from GENCODE Version 19

DNaseI Hypersensitivity by Digital DNaseI from ENCODEUniversity of Washington

GM12878 DNaseI HS Raw Signal Rep 2 from ENCODEUW

K562 TFBS Uniform Peaks of Znf143_(16618-1-AP) from ENCODEStanfordAnalysisK562 Znf143 IgG-rab ChIP-seq Peaks from ENCODESYDH K562 Znf143 IgG-rab ChIP-seq Signal from ENCODESYDH

K562 polyA+ IFNa30 RNA-seq Alignments from ENCODESYDH

Exome Aggregation Consortium (ExAC) - Variants from 60706 Exomes

BED

wig(gle)

BAM

VCF

Positional annotations (ex Regions w enriched ChIP-seq signal for TF binding Δrsquol methylation splice jxns from RNA-seq) Continuous signal data of reads (ex DNase I HS and ChIP-seq signals)

Alignments of seq reads mapped to genome (ex RNA-seq alignments)

Variation data SNPs indels Copy Number Variants Structural Variants (ex ExAC data)

Scalechr2

GM12878 Ht 2GM12878 Pk 2

2 kb191876000 191877000

STAT1STAT1STAT1STAT1STAT1

AGGAAC

CTT-

TCGATCCTTCGAAGGACTGAACTCAGGCAGAGTCCAAGAGTCGCAG

CTTCTCCT

GM12878 Sg 2100 _

1 _

K562 Z143 IgR40 _

3 _

DNaseI Hypersensitivity by Digital DNaseI from ENCODEUniversity of Washington

K562 Znf143 IgG-rab ChIP-seq Peaks from ENCODESYDH

K562 polyA+ IFNa30 RNA-seq Alignments from ENCODESYDH

191879000

Indexed File Formats 191878000

Basic Gene Annotation Set from GENCODE Version 19

GM12878 DNaseI HS Raw Signal Rep 2 from ENCODEUW

K562 TFBS Uniform Peaks of Znf143_(16618-1-AP) from ENCODEStanfordAnalysis

K562 Znf143 IgG-rab ChIP-seq Signal from ENCODESYDH

Exome Aggregation Consortium (ExAC) - Variants from 60706 Exomes

hg19191880000 191881000

BED bigBed

wig(gle) bigWig

BAM

VCF

   

  

Indexed File Formats

bull Only displayed portions of files transferred to UCSC

bull Display large files (would time out) bull File + index on your web-accessible

server (http https or ftp)bull Faster display bull More user control

File Formats

File Formats

File Formats

File Formats wwwencodeprojectorghelpfile-formats

Help File formats

Custom Tracks

Custom Tracks genomeucsceducgi-binhgCustom

Custom Tracks genomeucsceducgi-binhgCustom

track name=rdquoBED_custom_trackrdquo13 chr7 127471196 127472363 Gene1

Annotating your data BED

Tools Data Integrator

Data Integrator genomeucsceducgi-binhgIntegrator

Data Integrator

Data Integrator

httpgenomeucsceducgi-binhgIntegratorhgsid=43297266

1 of 1 62615 320 PM

Data Integrator ct_SYDHTFBS_4733chrom ct_SYDHTFBS_4733chromStart ct_SYDHTFBS_4733chromEnd ct_SYDHTFBS_4733name ct_SYDHTFBS_4733score wgEncodeGencodeBasicV19name wgEncodeGencodeBasicV19name2chr21 33031473 33032186 608 ENST000004493391 AP0002531 chr21 33031473 33032186 608 ENST000002701426 SOD1 chr21 33031473 33032186 608 ENST000003899954 SOD1 chr21 33031473 33032186 608 ENST000004709441 SOD1

       

Annotating your VCF file

1 Make a VCF custom track 2 Go to the Variant Annotation Integrator 3 Choose your track 4 Add annotations

   

Remotely Hosted Custom Tracks bull Put data file (bigBedbigWigBAMVCF etc)

in internet accessible location bull Must have 1 track info 2 bigDataUrl bull VCF example

track type=vcfTabix name=VCF_Example description=VCF Ex 1 1000 Genomes phase 1interim SNVs bigDataUrl= httphgwdevcseucscedu~paulinepresentationsvcfExamplevcfgz

  

Variant Annotation Integrator13

bull Upload pgSnp or VCF custom track13 bull Associate UCSC annotations with your

uploaded variant calls13 bull Add dbSNP info if dbSNP identifier

found13 bull Select custom track and VAI options13

3713

Variant Annotation Integrator13

Tools Variant Annotation Integrator

Variant Annotation Integrator13 genomeucsceducgi-binhgVai

   

  

Track Data Hubs 13

bull Remotely hosted13 bull Data persistence13 bull File formats 13

bigBED bigWig BAM VCF13 bull Track organization 13

groups supertracks13 bull multiWigs13 bull Assembly hubs13

Track Hubs

My Data Track Hubs

Track Hubs genomeucsceducgi-binhgHubConnect

My Data Track Hubs

My Hubs genomeucsceducgi-binhgHubConnect

My Data Track Hubs

   

Make Your Own Track Hub

You will need bull Data (compressed binary index formats

bigBed bigWig BAM VCF) bull Text files to define properties of the

track hub bull Internet-enabled webftp server bull Assembly Hubs

a twoBit sequence file

Track Hubs genomeucsceducgi-binhgHubConnect

My Data Track Hubs

myHub - directory containing track hub files

hubtxt - a short description of hub properties

genomestxt - list of genome assemblies included

hg19 - directory of data for the hg19 human assembly

Data files BAM bigBed bigWig VCF

An Example Assembly Hub

An Arabidopsis hub13 httpgenome-testcseucscedu

~paulinehubsPlantshubtxt13 13

131313

13

1313

     

Acknowledgements UCSC Genome Browser team

ndash David Haussler ndash co-PI ndash Jim Kent ndash Browser Concept BLAT Team Leader PI ndash Bob Kuhn ndash Associate Director Outreach ndash co-PI ndash Donna Karolchik Ann Zweig ndash Project Management

Engineering QA Docs Support Sys-admins

Angie Hinrichs Katrina Learned Jorge Garcia Pauline Fujita Erich Weiler Kate Rosenbloom

Hiram Clawson Luvina Guruvadoo Gary Moro Steve Heitner Galt Barber

Brian Raney Brian Lee

Max Haeussler Jonathan Caspar Matt Speir

THE GB TEAM

UC Santa Cruz Genomics Institute

Funding Sources

National Human Genome Research Institute (NHGRI)

National Cancer Institute (NCI)

National Institute for Dental and Cranio-Facial Research (NIDCR)

National Institute for Child Health and Human Development (NICHD)

QB3 (UCBerkeley UCSF UCSC)

American Recovery and Reinvestment Act (ARRA) stimulus funds

UC Santa Cruz Genomics Institute

genomeucscedu

THANK YOU

UC Santa Cruz Genomics Institute

   

Exercises 1 Load example BED and VCF tracks via url 2 Look at custom track data by pasting url into a

web browser 3 Annotate the TFBS custom track using the Data

Integrator 4 Annotate the VCF custom track using the Variant

Annotation Integrator

   

     

Exercise 1 Load example BED and VCF tracks via url

1 Go to the Custom tracks menu bull My Data -gt Custom Tracks

2 Input this url httpbitlycustomtracks (note that you must include the rdquohttprdquo part of this url or you will get an error) and click [submit]

3 Click the [Go to genome browser] button 4 Once in the main Browser jump to this position

bull chr2133034804-33037719 5 See if you can drag your 2 custom tracks to the top of

the display

Exercise 2 Exploring your BED and VCF tracks

1 Now that you have 2 custom tracks loaded take a look at the data by pasting that same url into a web browser

2 These custom tracks are actually data copied from some existing tracks see if you can find them turn them on and observe that the original tracks and custom tracks look the same in the browser bull Track 1 (BED format) Group (Regulation) Super

Track (ENC TF Binding) Track (SYDH TFBS) bull Track 2 (VCF format) Group (Variation) Track

(1000G Ph1 Vars) 3 Navigate to this position for best comparison (esp for the

VCF track) chr2133034804-33037719

   

   

Exercise 3 Annotate your BED with the Data Integrator

1 Go to the Data Integrator 2 Once there select

1 Region to annotate chr2133031597-33041570 2 Add data source group (custom tracks) track (SYDHhellip) [click

add]3 Now choose which annotations you want to add by [add]ing more

tracks to the list ndash ex 1 Find the genes that overlap with your regions group (Genes and

Gene Prediction) track (GENCODE V19) view (Genes)subtrack (Basic) [add]

2 Find the SNPs that overlap with your regions group (Variation)track (Common SNPs) [add]

Choose which fields to include in your outputOutput options -gt Choose fields [Done] -gt [get output]

   

   

   

Exercise 4 Annotate your VCF with the

Variant Annotation Integrator

1 Go to the Variant Annotation Integratorbull Tools -gt VAI

2 Select Variants bull Variants ldquoVCF Ex 1helliprdquo

3 Now choose which annotations you want to addbull To determine which gene regions your variants fall into select a

gene track (Select Genes = ldquoBasic Gene Annotation SethellipGENCODErdquo)

bull Add regulatory annotations Under ldquoSelect Regulatory Annotationsrdquo click the ldquo+rdquo button to choose which TFs to include (or select none to include all binding sites)

Bonus Material

Where to search genomeucsceducgi-binhgGateway

Where to search genomeucsceducgi-binhgGateway

Where to search Main Browser genomeucsceducgi-binhgTracks

Public Hubs

My Data Track Hubs

Where to search genomeucsceducgi-binhgHubConnect

Track search

Track search

Track search

Page 11: Visualizing ENCODE Data in the UCSC Genome Browser · Variant Annotation Integrator 1. Go to the Variant Annotation Integrator • Tools -> V.A.I. 2. Select Variants: • Variants:

ENCODE Track Settings

ENCODE Item Details

ENCODE Tools

ENCODE

ENCODE genomeucsceduENCODE

ENCODE Experiment Matrix

ENCODE ChIP-Seq Matrix

ENCODE Experiment Summary

ENCODE Track Search

AAGGACTGAACTCAGGCAGAGTCCAAGAGTCGCAG

GAAC

CTT

TCGA

TCTCCT

File Formats Scale chr2

GM12878 Ht 2 GM12878 Pk 2

2 kb hg19191876000 191877000 191878000 191879000 191880000 191881000

Basic Gene Annotation Set from GENCODE Version 19

DNaseI Hypersensitivity by Digital DNaseI from ENCODEUniversity of Washington

GM12878 DNaseI HS Raw Signal Rep 2 from ENCODEUW

K562 TFBS Uniform Peaks of Znf143_(16618-1-AP) from ENCODEStanfordAnalysisK562 Znf143 IgG-rab ChIP-seq Peaks from ENCODESYDH K562 Znf143 IgG-rab ChIP-seq Signal from ENCODESYDH

K562 polyA+ IFNa30 RNA-seq Alignments from ENCODESYDH

Exome Aggregation Consortium (ExAC) - Variants from 60706 Exomes

STAT1 STAT1 STAT1 STAT1 STAT1

AG

-

TC CT TC G

CT

GM12878 Sg 2 100 _

1 _

K562 Z143 IgR 40 _

3 _

bitlyfileformatsession

BED

wig(gle)

BAM

VCF

Scalechr2

GM12878 Ht 2GM12878 Pk 2

2 kb191876000 191877000

STAT1STAT1STAT1STAT1STAT1

AGGAAC

CTT-

TCGATCCTTCGAAGGACTGAACTCAGGCAGAGTCCAAGAGTCGCAG

CTTCTCCT

GM12878 Sg 2100 _

1 _

K562 Z143 IgR40 _

3 _

File Formats hg19

191878000 191879000 191880000 191881000Basic Gene Annotation Set from GENCODE Version 19

DNaseI Hypersensitivity by Digital DNaseI from ENCODEUniversity of Washington

GM12878 DNaseI HS Raw Signal Rep 2 from ENCODEUW

K562 TFBS Uniform Peaks of Znf143_(16618-1-AP) from ENCODEStanfordAnalysisK562 Znf143 IgG-rab ChIP-seq Peaks from ENCODESYDH K562 Znf143 IgG-rab ChIP-seq Signal from ENCODESYDH

K562 polyA+ IFNa30 RNA-seq Alignments from ENCODESYDH

Exome Aggregation Consortium (ExAC) - Variants from 60706 Exomes

BED

wig(gle)

BAM

VCF

Positional annotations (ex Regions w enriched ChIP-seq signal for TF binding Δrsquol methylation splice jxns from RNA-seq) Continuous signal data of reads (ex DNase I HS and ChIP-seq signals)

Alignments of seq reads mapped to genome (ex RNA-seq alignments)

Variation data SNPs indels Copy Number Variants Structural Variants (ex ExAC data)

Scalechr2

GM12878 Ht 2GM12878 Pk 2

2 kb191876000 191877000

STAT1STAT1STAT1STAT1STAT1

AGGAAC

CTT-

TCGATCCTTCGAAGGACTGAACTCAGGCAGAGTCCAAGAGTCGCAG

CTTCTCCT

GM12878 Sg 2100 _

1 _

K562 Z143 IgR40 _

3 _

DNaseI Hypersensitivity by Digital DNaseI from ENCODEUniversity of Washington

K562 Znf143 IgG-rab ChIP-seq Peaks from ENCODESYDH

K562 polyA+ IFNa30 RNA-seq Alignments from ENCODESYDH

191879000

Indexed File Formats 191878000

Basic Gene Annotation Set from GENCODE Version 19

GM12878 DNaseI HS Raw Signal Rep 2 from ENCODEUW

K562 TFBS Uniform Peaks of Znf143_(16618-1-AP) from ENCODEStanfordAnalysis

K562 Znf143 IgG-rab ChIP-seq Signal from ENCODESYDH

Exome Aggregation Consortium (ExAC) - Variants from 60706 Exomes

hg19191880000 191881000

BED bigBed

wig(gle) bigWig

BAM

VCF

   

  

Indexed File Formats

bull Only displayed portions of files transferred to UCSC

bull Display large files (would time out) bull File + index on your web-accessible

server (http https or ftp)bull Faster display bull More user control

File Formats

File Formats

File Formats

File Formats wwwencodeprojectorghelpfile-formats

Help File formats

Custom Tracks

Custom Tracks genomeucsceducgi-binhgCustom

Custom Tracks genomeucsceducgi-binhgCustom

track name=rdquoBED_custom_trackrdquo13 chr7 127471196 127472363 Gene1

Annotating your data BED

Tools Data Integrator

Data Integrator genomeucsceducgi-binhgIntegrator

Data Integrator

Data Integrator

httpgenomeucsceducgi-binhgIntegratorhgsid=43297266

1 of 1 62615 320 PM

Data Integrator ct_SYDHTFBS_4733chrom ct_SYDHTFBS_4733chromStart ct_SYDHTFBS_4733chromEnd ct_SYDHTFBS_4733name ct_SYDHTFBS_4733score wgEncodeGencodeBasicV19name wgEncodeGencodeBasicV19name2chr21 33031473 33032186 608 ENST000004493391 AP0002531 chr21 33031473 33032186 608 ENST000002701426 SOD1 chr21 33031473 33032186 608 ENST000003899954 SOD1 chr21 33031473 33032186 608 ENST000004709441 SOD1

       

Annotating your VCF file

1 Make a VCF custom track 2 Go to the Variant Annotation Integrator 3 Choose your track 4 Add annotations

   

Remotely Hosted Custom Tracks bull Put data file (bigBedbigWigBAMVCF etc)

in internet accessible location bull Must have 1 track info 2 bigDataUrl bull VCF example

track type=vcfTabix name=VCF_Example description=VCF Ex 1 1000 Genomes phase 1interim SNVs bigDataUrl= httphgwdevcseucscedu~paulinepresentationsvcfExamplevcfgz

  

Variant Annotation Integrator13

bull Upload pgSnp or VCF custom track13 bull Associate UCSC annotations with your

uploaded variant calls13 bull Add dbSNP info if dbSNP identifier

found13 bull Select custom track and VAI options13

3713

Variant Annotation Integrator13

Tools Variant Annotation Integrator

Variant Annotation Integrator13 genomeucsceducgi-binhgVai

   

  

Track Data Hubs 13

bull Remotely hosted13 bull Data persistence13 bull File formats 13

bigBED bigWig BAM VCF13 bull Track organization 13

groups supertracks13 bull multiWigs13 bull Assembly hubs13

Track Hubs

My Data Track Hubs

Track Hubs genomeucsceducgi-binhgHubConnect

My Data Track Hubs

My Hubs genomeucsceducgi-binhgHubConnect

My Data Track Hubs

   

Make Your Own Track Hub

You will need bull Data (compressed binary index formats

bigBed bigWig BAM VCF) bull Text files to define properties of the

track hub bull Internet-enabled webftp server bull Assembly Hubs

a twoBit sequence file

Track Hubs genomeucsceducgi-binhgHubConnect

My Data Track Hubs

myHub - directory containing track hub files

hubtxt - a short description of hub properties

genomestxt - list of genome assemblies included

hg19 - directory of data for the hg19 human assembly

Data files BAM bigBed bigWig VCF

An Example Assembly Hub

An Arabidopsis hub13 httpgenome-testcseucscedu

~paulinehubsPlantshubtxt13 13

131313

13

1313

     

Acknowledgements UCSC Genome Browser team

ndash David Haussler ndash co-PI ndash Jim Kent ndash Browser Concept BLAT Team Leader PI ndash Bob Kuhn ndash Associate Director Outreach ndash co-PI ndash Donna Karolchik Ann Zweig ndash Project Management

Engineering QA Docs Support Sys-admins

Angie Hinrichs Katrina Learned Jorge Garcia Pauline Fujita Erich Weiler Kate Rosenbloom

Hiram Clawson Luvina Guruvadoo Gary Moro Steve Heitner Galt Barber

Brian Raney Brian Lee

Max Haeussler Jonathan Caspar Matt Speir

THE GB TEAM

UC Santa Cruz Genomics Institute

Funding Sources

National Human Genome Research Institute (NHGRI)

National Cancer Institute (NCI)

National Institute for Dental and Cranio-Facial Research (NIDCR)

National Institute for Child Health and Human Development (NICHD)

QB3 (UCBerkeley UCSF UCSC)

American Recovery and Reinvestment Act (ARRA) stimulus funds

UC Santa Cruz Genomics Institute

genomeucscedu

THANK YOU

UC Santa Cruz Genomics Institute

   

Exercises 1 Load example BED and VCF tracks via url 2 Look at custom track data by pasting url into a

web browser 3 Annotate the TFBS custom track using the Data

Integrator 4 Annotate the VCF custom track using the Variant

Annotation Integrator

   

     

Exercise 1 Load example BED and VCF tracks via url

1 Go to the Custom tracks menu bull My Data -gt Custom Tracks

2 Input this url httpbitlycustomtracks (note that you must include the rdquohttprdquo part of this url or you will get an error) and click [submit]

3 Click the [Go to genome browser] button 4 Once in the main Browser jump to this position

bull chr2133034804-33037719 5 See if you can drag your 2 custom tracks to the top of

the display

Exercise 2 Exploring your BED and VCF tracks

1 Now that you have 2 custom tracks loaded take a look at the data by pasting that same url into a web browser

2 These custom tracks are actually data copied from some existing tracks see if you can find them turn them on and observe that the original tracks and custom tracks look the same in the browser bull Track 1 (BED format) Group (Regulation) Super

Track (ENC TF Binding) Track (SYDH TFBS) bull Track 2 (VCF format) Group (Variation) Track

(1000G Ph1 Vars) 3 Navigate to this position for best comparison (esp for the

VCF track) chr2133034804-33037719

   

   

Exercise 3 Annotate your BED with the Data Integrator

1 Go to the Data Integrator 2 Once there select

1 Region to annotate chr2133031597-33041570 2 Add data source group (custom tracks) track (SYDHhellip) [click

add]3 Now choose which annotations you want to add by [add]ing more

tracks to the list ndash ex 1 Find the genes that overlap with your regions group (Genes and

Gene Prediction) track (GENCODE V19) view (Genes)subtrack (Basic) [add]

2 Find the SNPs that overlap with your regions group (Variation)track (Common SNPs) [add]

Choose which fields to include in your outputOutput options -gt Choose fields [Done] -gt [get output]

   

   

   

Exercise 4 Annotate your VCF with the

Variant Annotation Integrator

1 Go to the Variant Annotation Integratorbull Tools -gt VAI

2 Select Variants bull Variants ldquoVCF Ex 1helliprdquo

3 Now choose which annotations you want to addbull To determine which gene regions your variants fall into select a

gene track (Select Genes = ldquoBasic Gene Annotation SethellipGENCODErdquo)

bull Add regulatory annotations Under ldquoSelect Regulatory Annotationsrdquo click the ldquo+rdquo button to choose which TFs to include (or select none to include all binding sites)

Bonus Material

Where to search genomeucsceducgi-binhgGateway

Where to search genomeucsceducgi-binhgGateway

Where to search Main Browser genomeucsceducgi-binhgTracks

Public Hubs

My Data Track Hubs

Where to search genomeucsceducgi-binhgHubConnect

Track search

Track search

Track search

Page 12: Visualizing ENCODE Data in the UCSC Genome Browser · Variant Annotation Integrator 1. Go to the Variant Annotation Integrator • Tools -> V.A.I. 2. Select Variants: • Variants:

ENCODE Item Details

ENCODE Tools

ENCODE

ENCODE genomeucsceduENCODE

ENCODE Experiment Matrix

ENCODE ChIP-Seq Matrix

ENCODE Experiment Summary

ENCODE Track Search

AAGGACTGAACTCAGGCAGAGTCCAAGAGTCGCAG

GAAC

CTT

TCGA

TCTCCT

File Formats Scale chr2

GM12878 Ht 2 GM12878 Pk 2

2 kb hg19191876000 191877000 191878000 191879000 191880000 191881000

Basic Gene Annotation Set from GENCODE Version 19

DNaseI Hypersensitivity by Digital DNaseI from ENCODEUniversity of Washington

GM12878 DNaseI HS Raw Signal Rep 2 from ENCODEUW

K562 TFBS Uniform Peaks of Znf143_(16618-1-AP) from ENCODEStanfordAnalysisK562 Znf143 IgG-rab ChIP-seq Peaks from ENCODESYDH K562 Znf143 IgG-rab ChIP-seq Signal from ENCODESYDH

K562 polyA+ IFNa30 RNA-seq Alignments from ENCODESYDH

Exome Aggregation Consortium (ExAC) - Variants from 60706 Exomes

STAT1 STAT1 STAT1 STAT1 STAT1

AG

-

TC CT TC G

CT

GM12878 Sg 2 100 _

1 _

K562 Z143 IgR 40 _

3 _

bitlyfileformatsession

BED

wig(gle)

BAM

VCF

Scalechr2

GM12878 Ht 2GM12878 Pk 2

2 kb191876000 191877000

STAT1STAT1STAT1STAT1STAT1

AGGAAC

CTT-

TCGATCCTTCGAAGGACTGAACTCAGGCAGAGTCCAAGAGTCGCAG

CTTCTCCT

GM12878 Sg 2100 _

1 _

K562 Z143 IgR40 _

3 _

File Formats hg19

191878000 191879000 191880000 191881000Basic Gene Annotation Set from GENCODE Version 19

DNaseI Hypersensitivity by Digital DNaseI from ENCODEUniversity of Washington

GM12878 DNaseI HS Raw Signal Rep 2 from ENCODEUW

K562 TFBS Uniform Peaks of Znf143_(16618-1-AP) from ENCODEStanfordAnalysisK562 Znf143 IgG-rab ChIP-seq Peaks from ENCODESYDH K562 Znf143 IgG-rab ChIP-seq Signal from ENCODESYDH

K562 polyA+ IFNa30 RNA-seq Alignments from ENCODESYDH

Exome Aggregation Consortium (ExAC) - Variants from 60706 Exomes

BED

wig(gle)

BAM

VCF

Positional annotations (ex Regions w enriched ChIP-seq signal for TF binding Δrsquol methylation splice jxns from RNA-seq) Continuous signal data of reads (ex DNase I HS and ChIP-seq signals)

Alignments of seq reads mapped to genome (ex RNA-seq alignments)

Variation data SNPs indels Copy Number Variants Structural Variants (ex ExAC data)

Scalechr2

GM12878 Ht 2GM12878 Pk 2

2 kb191876000 191877000

STAT1STAT1STAT1STAT1STAT1

AGGAAC

CTT-

TCGATCCTTCGAAGGACTGAACTCAGGCAGAGTCCAAGAGTCGCAG

CTTCTCCT

GM12878 Sg 2100 _

1 _

K562 Z143 IgR40 _

3 _

DNaseI Hypersensitivity by Digital DNaseI from ENCODEUniversity of Washington

K562 Znf143 IgG-rab ChIP-seq Peaks from ENCODESYDH

K562 polyA+ IFNa30 RNA-seq Alignments from ENCODESYDH

191879000

Indexed File Formats 191878000

Basic Gene Annotation Set from GENCODE Version 19

GM12878 DNaseI HS Raw Signal Rep 2 from ENCODEUW

K562 TFBS Uniform Peaks of Znf143_(16618-1-AP) from ENCODEStanfordAnalysis

K562 Znf143 IgG-rab ChIP-seq Signal from ENCODESYDH

Exome Aggregation Consortium (ExAC) - Variants from 60706 Exomes

hg19191880000 191881000

BED bigBed

wig(gle) bigWig

BAM

VCF

   

  

Indexed File Formats

bull Only displayed portions of files transferred to UCSC

bull Display large files (would time out) bull File + index on your web-accessible

server (http https or ftp)bull Faster display bull More user control

File Formats

File Formats

File Formats

File Formats wwwencodeprojectorghelpfile-formats

Help File formats

Custom Tracks

Custom Tracks genomeucsceducgi-binhgCustom

Custom Tracks genomeucsceducgi-binhgCustom

track name=rdquoBED_custom_trackrdquo13 chr7 127471196 127472363 Gene1

Annotating your data BED

Tools Data Integrator

Data Integrator genomeucsceducgi-binhgIntegrator

Data Integrator

Data Integrator

httpgenomeucsceducgi-binhgIntegratorhgsid=43297266

1 of 1 62615 320 PM

Data Integrator ct_SYDHTFBS_4733chrom ct_SYDHTFBS_4733chromStart ct_SYDHTFBS_4733chromEnd ct_SYDHTFBS_4733name ct_SYDHTFBS_4733score wgEncodeGencodeBasicV19name wgEncodeGencodeBasicV19name2chr21 33031473 33032186 608 ENST000004493391 AP0002531 chr21 33031473 33032186 608 ENST000002701426 SOD1 chr21 33031473 33032186 608 ENST000003899954 SOD1 chr21 33031473 33032186 608 ENST000004709441 SOD1

       

Annotating your VCF file

1 Make a VCF custom track 2 Go to the Variant Annotation Integrator 3 Choose your track 4 Add annotations

   

Remotely Hosted Custom Tracks bull Put data file (bigBedbigWigBAMVCF etc)

in internet accessible location bull Must have 1 track info 2 bigDataUrl bull VCF example

track type=vcfTabix name=VCF_Example description=VCF Ex 1 1000 Genomes phase 1interim SNVs bigDataUrl= httphgwdevcseucscedu~paulinepresentationsvcfExamplevcfgz

  

Variant Annotation Integrator13

bull Upload pgSnp or VCF custom track13 bull Associate UCSC annotations with your

uploaded variant calls13 bull Add dbSNP info if dbSNP identifier

found13 bull Select custom track and VAI options13

3713

Variant Annotation Integrator13

Tools Variant Annotation Integrator

Variant Annotation Integrator13 genomeucsceducgi-binhgVai

   

  

Track Data Hubs 13

bull Remotely hosted13 bull Data persistence13 bull File formats 13

bigBED bigWig BAM VCF13 bull Track organization 13

groups supertracks13 bull multiWigs13 bull Assembly hubs13

Track Hubs

My Data Track Hubs

Track Hubs genomeucsceducgi-binhgHubConnect

My Data Track Hubs

My Hubs genomeucsceducgi-binhgHubConnect

My Data Track Hubs

   

Make Your Own Track Hub

You will need bull Data (compressed binary index formats

bigBed bigWig BAM VCF) bull Text files to define properties of the

track hub bull Internet-enabled webftp server bull Assembly Hubs

a twoBit sequence file

Track Hubs genomeucsceducgi-binhgHubConnect

My Data Track Hubs

myHub - directory containing track hub files

hubtxt - a short description of hub properties

genomestxt - list of genome assemblies included

hg19 - directory of data for the hg19 human assembly

Data files BAM bigBed bigWig VCF

An Example Assembly Hub

An Arabidopsis hub13 httpgenome-testcseucscedu

~paulinehubsPlantshubtxt13 13

131313

13

1313

     

Acknowledgements UCSC Genome Browser team

ndash David Haussler ndash co-PI ndash Jim Kent ndash Browser Concept BLAT Team Leader PI ndash Bob Kuhn ndash Associate Director Outreach ndash co-PI ndash Donna Karolchik Ann Zweig ndash Project Management

Engineering QA Docs Support Sys-admins

Angie Hinrichs Katrina Learned Jorge Garcia Pauline Fujita Erich Weiler Kate Rosenbloom

Hiram Clawson Luvina Guruvadoo Gary Moro Steve Heitner Galt Barber

Brian Raney Brian Lee

Max Haeussler Jonathan Caspar Matt Speir

THE GB TEAM

UC Santa Cruz Genomics Institute

Funding Sources

National Human Genome Research Institute (NHGRI)

National Cancer Institute (NCI)

National Institute for Dental and Cranio-Facial Research (NIDCR)

National Institute for Child Health and Human Development (NICHD)

QB3 (UCBerkeley UCSF UCSC)

American Recovery and Reinvestment Act (ARRA) stimulus funds

UC Santa Cruz Genomics Institute

genomeucscedu

THANK YOU

UC Santa Cruz Genomics Institute

   

Exercises 1 Load example BED and VCF tracks via url 2 Look at custom track data by pasting url into a

web browser 3 Annotate the TFBS custom track using the Data

Integrator 4 Annotate the VCF custom track using the Variant

Annotation Integrator

   

     

Exercise 1 Load example BED and VCF tracks via url

1 Go to the Custom tracks menu bull My Data -gt Custom Tracks

2 Input this url httpbitlycustomtracks (note that you must include the rdquohttprdquo part of this url or you will get an error) and click [submit]

3 Click the [Go to genome browser] button 4 Once in the main Browser jump to this position

bull chr2133034804-33037719 5 See if you can drag your 2 custom tracks to the top of

the display

Exercise 2 Exploring your BED and VCF tracks

1 Now that you have 2 custom tracks loaded take a look at the data by pasting that same url into a web browser

2 These custom tracks are actually data copied from some existing tracks see if you can find them turn them on and observe that the original tracks and custom tracks look the same in the browser bull Track 1 (BED format) Group (Regulation) Super

Track (ENC TF Binding) Track (SYDH TFBS) bull Track 2 (VCF format) Group (Variation) Track

(1000G Ph1 Vars) 3 Navigate to this position for best comparison (esp for the

VCF track) chr2133034804-33037719

   

   

Exercise 3 Annotate your BED with the Data Integrator

1 Go to the Data Integrator 2 Once there select

1 Region to annotate chr2133031597-33041570 2 Add data source group (custom tracks) track (SYDHhellip) [click

add]3 Now choose which annotations you want to add by [add]ing more

tracks to the list ndash ex 1 Find the genes that overlap with your regions group (Genes and

Gene Prediction) track (GENCODE V19) view (Genes)subtrack (Basic) [add]

2 Find the SNPs that overlap with your regions group (Variation)track (Common SNPs) [add]

Choose which fields to include in your outputOutput options -gt Choose fields [Done] -gt [get output]

   

   

   

Exercise 4 Annotate your VCF with the

Variant Annotation Integrator

1 Go to the Variant Annotation Integratorbull Tools -gt VAI

2 Select Variants bull Variants ldquoVCF Ex 1helliprdquo

3 Now choose which annotations you want to addbull To determine which gene regions your variants fall into select a

gene track (Select Genes = ldquoBasic Gene Annotation SethellipGENCODErdquo)

bull Add regulatory annotations Under ldquoSelect Regulatory Annotationsrdquo click the ldquo+rdquo button to choose which TFs to include (or select none to include all binding sites)

Bonus Material

Where to search genomeucsceducgi-binhgGateway

Where to search genomeucsceducgi-binhgGateway

Where to search Main Browser genomeucsceducgi-binhgTracks

Public Hubs

My Data Track Hubs

Where to search genomeucsceducgi-binhgHubConnect

Track search

Track search

Track search

Page 13: Visualizing ENCODE Data in the UCSC Genome Browser · Variant Annotation Integrator 1. Go to the Variant Annotation Integrator • Tools -> V.A.I. 2. Select Variants: • Variants:

ENCODE Tools

ENCODE

ENCODE genomeucsceduENCODE

ENCODE Experiment Matrix

ENCODE ChIP-Seq Matrix

ENCODE Experiment Summary

ENCODE Track Search

AAGGACTGAACTCAGGCAGAGTCCAAGAGTCGCAG

GAAC

CTT

TCGA

TCTCCT

File Formats Scale chr2

GM12878 Ht 2 GM12878 Pk 2

2 kb hg19191876000 191877000 191878000 191879000 191880000 191881000

Basic Gene Annotation Set from GENCODE Version 19

DNaseI Hypersensitivity by Digital DNaseI from ENCODEUniversity of Washington

GM12878 DNaseI HS Raw Signal Rep 2 from ENCODEUW

K562 TFBS Uniform Peaks of Znf143_(16618-1-AP) from ENCODEStanfordAnalysisK562 Znf143 IgG-rab ChIP-seq Peaks from ENCODESYDH K562 Znf143 IgG-rab ChIP-seq Signal from ENCODESYDH

K562 polyA+ IFNa30 RNA-seq Alignments from ENCODESYDH

Exome Aggregation Consortium (ExAC) - Variants from 60706 Exomes

STAT1 STAT1 STAT1 STAT1 STAT1

AG

-

TC CT TC G

CT

GM12878 Sg 2 100 _

1 _

K562 Z143 IgR 40 _

3 _

bitlyfileformatsession

BED

wig(gle)

BAM

VCF

Scalechr2

GM12878 Ht 2GM12878 Pk 2

2 kb191876000 191877000

STAT1STAT1STAT1STAT1STAT1

AGGAAC

CTT-

TCGATCCTTCGAAGGACTGAACTCAGGCAGAGTCCAAGAGTCGCAG

CTTCTCCT

GM12878 Sg 2100 _

1 _

K562 Z143 IgR40 _

3 _

File Formats hg19

191878000 191879000 191880000 191881000Basic Gene Annotation Set from GENCODE Version 19

DNaseI Hypersensitivity by Digital DNaseI from ENCODEUniversity of Washington

GM12878 DNaseI HS Raw Signal Rep 2 from ENCODEUW

K562 TFBS Uniform Peaks of Znf143_(16618-1-AP) from ENCODEStanfordAnalysisK562 Znf143 IgG-rab ChIP-seq Peaks from ENCODESYDH K562 Znf143 IgG-rab ChIP-seq Signal from ENCODESYDH

K562 polyA+ IFNa30 RNA-seq Alignments from ENCODESYDH

Exome Aggregation Consortium (ExAC) - Variants from 60706 Exomes

BED

wig(gle)

BAM

VCF

Positional annotations (ex Regions w enriched ChIP-seq signal for TF binding Δrsquol methylation splice jxns from RNA-seq) Continuous signal data of reads (ex DNase I HS and ChIP-seq signals)

Alignments of seq reads mapped to genome (ex RNA-seq alignments)

Variation data SNPs indels Copy Number Variants Structural Variants (ex ExAC data)

Scalechr2

GM12878 Ht 2GM12878 Pk 2

2 kb191876000 191877000

STAT1STAT1STAT1STAT1STAT1

AGGAAC

CTT-

TCGATCCTTCGAAGGACTGAACTCAGGCAGAGTCCAAGAGTCGCAG

CTTCTCCT

GM12878 Sg 2100 _

1 _

K562 Z143 IgR40 _

3 _

DNaseI Hypersensitivity by Digital DNaseI from ENCODEUniversity of Washington

K562 Znf143 IgG-rab ChIP-seq Peaks from ENCODESYDH

K562 polyA+ IFNa30 RNA-seq Alignments from ENCODESYDH

191879000

Indexed File Formats 191878000

Basic Gene Annotation Set from GENCODE Version 19

GM12878 DNaseI HS Raw Signal Rep 2 from ENCODEUW

K562 TFBS Uniform Peaks of Znf143_(16618-1-AP) from ENCODEStanfordAnalysis

K562 Znf143 IgG-rab ChIP-seq Signal from ENCODESYDH

Exome Aggregation Consortium (ExAC) - Variants from 60706 Exomes

hg19191880000 191881000

BED bigBed

wig(gle) bigWig

BAM

VCF

   

  

Indexed File Formats

bull Only displayed portions of files transferred to UCSC

bull Display large files (would time out) bull File + index on your web-accessible

server (http https or ftp)bull Faster display bull More user control

File Formats

File Formats

File Formats

File Formats wwwencodeprojectorghelpfile-formats

Help File formats

Custom Tracks

Custom Tracks genomeucsceducgi-binhgCustom

Custom Tracks genomeucsceducgi-binhgCustom

track name=rdquoBED_custom_trackrdquo13 chr7 127471196 127472363 Gene1

Annotating your data BED

Tools Data Integrator

Data Integrator genomeucsceducgi-binhgIntegrator

Data Integrator

Data Integrator

httpgenomeucsceducgi-binhgIntegratorhgsid=43297266

1 of 1 62615 320 PM

Data Integrator ct_SYDHTFBS_4733chrom ct_SYDHTFBS_4733chromStart ct_SYDHTFBS_4733chromEnd ct_SYDHTFBS_4733name ct_SYDHTFBS_4733score wgEncodeGencodeBasicV19name wgEncodeGencodeBasicV19name2chr21 33031473 33032186 608 ENST000004493391 AP0002531 chr21 33031473 33032186 608 ENST000002701426 SOD1 chr21 33031473 33032186 608 ENST000003899954 SOD1 chr21 33031473 33032186 608 ENST000004709441 SOD1

       

Annotating your VCF file

1 Make a VCF custom track 2 Go to the Variant Annotation Integrator 3 Choose your track 4 Add annotations

   

Remotely Hosted Custom Tracks bull Put data file (bigBedbigWigBAMVCF etc)

in internet accessible location bull Must have 1 track info 2 bigDataUrl bull VCF example

track type=vcfTabix name=VCF_Example description=VCF Ex 1 1000 Genomes phase 1interim SNVs bigDataUrl= httphgwdevcseucscedu~paulinepresentationsvcfExamplevcfgz

  

Variant Annotation Integrator13

bull Upload pgSnp or VCF custom track13 bull Associate UCSC annotations with your

uploaded variant calls13 bull Add dbSNP info if dbSNP identifier

found13 bull Select custom track and VAI options13

3713

Variant Annotation Integrator13

Tools Variant Annotation Integrator

Variant Annotation Integrator13 genomeucsceducgi-binhgVai

   

  

Track Data Hubs 13

bull Remotely hosted13 bull Data persistence13 bull File formats 13

bigBED bigWig BAM VCF13 bull Track organization 13

groups supertracks13 bull multiWigs13 bull Assembly hubs13

Track Hubs

My Data Track Hubs

Track Hubs genomeucsceducgi-binhgHubConnect

My Data Track Hubs

My Hubs genomeucsceducgi-binhgHubConnect

My Data Track Hubs

   

Make Your Own Track Hub

You will need bull Data (compressed binary index formats

bigBed bigWig BAM VCF) bull Text files to define properties of the

track hub bull Internet-enabled webftp server bull Assembly Hubs

a twoBit sequence file

Track Hubs genomeucsceducgi-binhgHubConnect

My Data Track Hubs

myHub - directory containing track hub files

hubtxt - a short description of hub properties

genomestxt - list of genome assemblies included

hg19 - directory of data for the hg19 human assembly

Data files BAM bigBed bigWig VCF

An Example Assembly Hub

An Arabidopsis hub13 httpgenome-testcseucscedu

~paulinehubsPlantshubtxt13 13

131313

13

1313

     

Acknowledgements UCSC Genome Browser team

ndash David Haussler ndash co-PI ndash Jim Kent ndash Browser Concept BLAT Team Leader PI ndash Bob Kuhn ndash Associate Director Outreach ndash co-PI ndash Donna Karolchik Ann Zweig ndash Project Management

Engineering QA Docs Support Sys-admins

Angie Hinrichs Katrina Learned Jorge Garcia Pauline Fujita Erich Weiler Kate Rosenbloom

Hiram Clawson Luvina Guruvadoo Gary Moro Steve Heitner Galt Barber

Brian Raney Brian Lee

Max Haeussler Jonathan Caspar Matt Speir

THE GB TEAM

UC Santa Cruz Genomics Institute

Funding Sources

National Human Genome Research Institute (NHGRI)

National Cancer Institute (NCI)

National Institute for Dental and Cranio-Facial Research (NIDCR)

National Institute for Child Health and Human Development (NICHD)

QB3 (UCBerkeley UCSF UCSC)

American Recovery and Reinvestment Act (ARRA) stimulus funds

UC Santa Cruz Genomics Institute

genomeucscedu

THANK YOU

UC Santa Cruz Genomics Institute

   

Exercises 1 Load example BED and VCF tracks via url 2 Look at custom track data by pasting url into a

web browser 3 Annotate the TFBS custom track using the Data

Integrator 4 Annotate the VCF custom track using the Variant

Annotation Integrator

   

     

Exercise 1 Load example BED and VCF tracks via url

1 Go to the Custom tracks menu bull My Data -gt Custom Tracks

2 Input this url httpbitlycustomtracks (note that you must include the rdquohttprdquo part of this url or you will get an error) and click [submit]

3 Click the [Go to genome browser] button 4 Once in the main Browser jump to this position

bull chr2133034804-33037719 5 See if you can drag your 2 custom tracks to the top of

the display

Exercise 2 Exploring your BED and VCF tracks

1 Now that you have 2 custom tracks loaded take a look at the data by pasting that same url into a web browser

2 These custom tracks are actually data copied from some existing tracks see if you can find them turn them on and observe that the original tracks and custom tracks look the same in the browser bull Track 1 (BED format) Group (Regulation) Super

Track (ENC TF Binding) Track (SYDH TFBS) bull Track 2 (VCF format) Group (Variation) Track

(1000G Ph1 Vars) 3 Navigate to this position for best comparison (esp for the

VCF track) chr2133034804-33037719

   

   

Exercise 3 Annotate your BED with the Data Integrator

1 Go to the Data Integrator 2 Once there select

1 Region to annotate chr2133031597-33041570 2 Add data source group (custom tracks) track (SYDHhellip) [click

add]3 Now choose which annotations you want to add by [add]ing more

tracks to the list ndash ex 1 Find the genes that overlap with your regions group (Genes and

Gene Prediction) track (GENCODE V19) view (Genes)subtrack (Basic) [add]

2 Find the SNPs that overlap with your regions group (Variation)track (Common SNPs) [add]

Choose which fields to include in your outputOutput options -gt Choose fields [Done] -gt [get output]

   

   

   

Exercise 4 Annotate your VCF with the

Variant Annotation Integrator

1 Go to the Variant Annotation Integratorbull Tools -gt VAI

2 Select Variants bull Variants ldquoVCF Ex 1helliprdquo

3 Now choose which annotations you want to addbull To determine which gene regions your variants fall into select a

gene track (Select Genes = ldquoBasic Gene Annotation SethellipGENCODErdquo)

bull Add regulatory annotations Under ldquoSelect Regulatory Annotationsrdquo click the ldquo+rdquo button to choose which TFs to include (or select none to include all binding sites)

Bonus Material

Where to search genomeucsceducgi-binhgGateway

Where to search genomeucsceducgi-binhgGateway

Where to search Main Browser genomeucsceducgi-binhgTracks

Public Hubs

My Data Track Hubs

Where to search genomeucsceducgi-binhgHubConnect

Track search

Track search

Track search

Page 14: Visualizing ENCODE Data in the UCSC Genome Browser · Variant Annotation Integrator 1. Go to the Variant Annotation Integrator • Tools -> V.A.I. 2. Select Variants: • Variants:

ENCODE

ENCODE genomeucsceduENCODE

ENCODE Experiment Matrix

ENCODE ChIP-Seq Matrix

ENCODE Experiment Summary

ENCODE Track Search

AAGGACTGAACTCAGGCAGAGTCCAAGAGTCGCAG

GAAC

CTT

TCGA

TCTCCT

File Formats Scale chr2

GM12878 Ht 2 GM12878 Pk 2

2 kb hg19191876000 191877000 191878000 191879000 191880000 191881000

Basic Gene Annotation Set from GENCODE Version 19

DNaseI Hypersensitivity by Digital DNaseI from ENCODEUniversity of Washington

GM12878 DNaseI HS Raw Signal Rep 2 from ENCODEUW

K562 TFBS Uniform Peaks of Znf143_(16618-1-AP) from ENCODEStanfordAnalysisK562 Znf143 IgG-rab ChIP-seq Peaks from ENCODESYDH K562 Znf143 IgG-rab ChIP-seq Signal from ENCODESYDH

K562 polyA+ IFNa30 RNA-seq Alignments from ENCODESYDH

Exome Aggregation Consortium (ExAC) - Variants from 60706 Exomes

STAT1 STAT1 STAT1 STAT1 STAT1

AG

-

TC CT TC G

CT

GM12878 Sg 2 100 _

1 _

K562 Z143 IgR 40 _

3 _

bitlyfileformatsession

BED

wig(gle)

BAM

VCF

Scalechr2

GM12878 Ht 2GM12878 Pk 2

2 kb191876000 191877000

STAT1STAT1STAT1STAT1STAT1

AGGAAC

CTT-

TCGATCCTTCGAAGGACTGAACTCAGGCAGAGTCCAAGAGTCGCAG

CTTCTCCT

GM12878 Sg 2100 _

1 _

K562 Z143 IgR40 _

3 _

File Formats hg19

191878000 191879000 191880000 191881000Basic Gene Annotation Set from GENCODE Version 19

DNaseI Hypersensitivity by Digital DNaseI from ENCODEUniversity of Washington

GM12878 DNaseI HS Raw Signal Rep 2 from ENCODEUW

K562 TFBS Uniform Peaks of Znf143_(16618-1-AP) from ENCODEStanfordAnalysisK562 Znf143 IgG-rab ChIP-seq Peaks from ENCODESYDH K562 Znf143 IgG-rab ChIP-seq Signal from ENCODESYDH

K562 polyA+ IFNa30 RNA-seq Alignments from ENCODESYDH

Exome Aggregation Consortium (ExAC) - Variants from 60706 Exomes

BED

wig(gle)

BAM

VCF

Positional annotations (ex Regions w enriched ChIP-seq signal for TF binding Δrsquol methylation splice jxns from RNA-seq) Continuous signal data of reads (ex DNase I HS and ChIP-seq signals)

Alignments of seq reads mapped to genome (ex RNA-seq alignments)

Variation data SNPs indels Copy Number Variants Structural Variants (ex ExAC data)

Scalechr2

GM12878 Ht 2GM12878 Pk 2

2 kb191876000 191877000

STAT1STAT1STAT1STAT1STAT1

AGGAAC

CTT-

TCGATCCTTCGAAGGACTGAACTCAGGCAGAGTCCAAGAGTCGCAG

CTTCTCCT

GM12878 Sg 2100 _

1 _

K562 Z143 IgR40 _

3 _

DNaseI Hypersensitivity by Digital DNaseI from ENCODEUniversity of Washington

K562 Znf143 IgG-rab ChIP-seq Peaks from ENCODESYDH

K562 polyA+ IFNa30 RNA-seq Alignments from ENCODESYDH

191879000

Indexed File Formats 191878000

Basic Gene Annotation Set from GENCODE Version 19

GM12878 DNaseI HS Raw Signal Rep 2 from ENCODEUW

K562 TFBS Uniform Peaks of Znf143_(16618-1-AP) from ENCODEStanfordAnalysis

K562 Znf143 IgG-rab ChIP-seq Signal from ENCODESYDH

Exome Aggregation Consortium (ExAC) - Variants from 60706 Exomes

hg19191880000 191881000

BED bigBed

wig(gle) bigWig

BAM

VCF

   

  

Indexed File Formats

bull Only displayed portions of files transferred to UCSC

bull Display large files (would time out) bull File + index on your web-accessible

server (http https or ftp)bull Faster display bull More user control

File Formats

File Formats

File Formats

File Formats wwwencodeprojectorghelpfile-formats

Help File formats

Custom Tracks

Custom Tracks genomeucsceducgi-binhgCustom

Custom Tracks genomeucsceducgi-binhgCustom

track name=rdquoBED_custom_trackrdquo13 chr7 127471196 127472363 Gene1

Annotating your data BED

Tools Data Integrator

Data Integrator genomeucsceducgi-binhgIntegrator

Data Integrator

Data Integrator

httpgenomeucsceducgi-binhgIntegratorhgsid=43297266

1 of 1 62615 320 PM

Data Integrator ct_SYDHTFBS_4733chrom ct_SYDHTFBS_4733chromStart ct_SYDHTFBS_4733chromEnd ct_SYDHTFBS_4733name ct_SYDHTFBS_4733score wgEncodeGencodeBasicV19name wgEncodeGencodeBasicV19name2chr21 33031473 33032186 608 ENST000004493391 AP0002531 chr21 33031473 33032186 608 ENST000002701426 SOD1 chr21 33031473 33032186 608 ENST000003899954 SOD1 chr21 33031473 33032186 608 ENST000004709441 SOD1

       

Annotating your VCF file

1 Make a VCF custom track 2 Go to the Variant Annotation Integrator 3 Choose your track 4 Add annotations

   

Remotely Hosted Custom Tracks bull Put data file (bigBedbigWigBAMVCF etc)

in internet accessible location bull Must have 1 track info 2 bigDataUrl bull VCF example

track type=vcfTabix name=VCF_Example description=VCF Ex 1 1000 Genomes phase 1interim SNVs bigDataUrl= httphgwdevcseucscedu~paulinepresentationsvcfExamplevcfgz

  

Variant Annotation Integrator13

bull Upload pgSnp or VCF custom track13 bull Associate UCSC annotations with your

uploaded variant calls13 bull Add dbSNP info if dbSNP identifier

found13 bull Select custom track and VAI options13

3713

Variant Annotation Integrator13

Tools Variant Annotation Integrator

Variant Annotation Integrator13 genomeucsceducgi-binhgVai

   

  

Track Data Hubs 13

bull Remotely hosted13 bull Data persistence13 bull File formats 13

bigBED bigWig BAM VCF13 bull Track organization 13

groups supertracks13 bull multiWigs13 bull Assembly hubs13

Track Hubs

My Data Track Hubs

Track Hubs genomeucsceducgi-binhgHubConnect

My Data Track Hubs

My Hubs genomeucsceducgi-binhgHubConnect

My Data Track Hubs

   

Make Your Own Track Hub

You will need bull Data (compressed binary index formats

bigBed bigWig BAM VCF) bull Text files to define properties of the

track hub bull Internet-enabled webftp server bull Assembly Hubs

a twoBit sequence file

Track Hubs genomeucsceducgi-binhgHubConnect

My Data Track Hubs

myHub - directory containing track hub files

hubtxt - a short description of hub properties

genomestxt - list of genome assemblies included

hg19 - directory of data for the hg19 human assembly

Data files BAM bigBed bigWig VCF

An Example Assembly Hub

An Arabidopsis hub13 httpgenome-testcseucscedu

~paulinehubsPlantshubtxt13 13

131313

13

1313

     

Acknowledgements UCSC Genome Browser team

ndash David Haussler ndash co-PI ndash Jim Kent ndash Browser Concept BLAT Team Leader PI ndash Bob Kuhn ndash Associate Director Outreach ndash co-PI ndash Donna Karolchik Ann Zweig ndash Project Management

Engineering QA Docs Support Sys-admins

Angie Hinrichs Katrina Learned Jorge Garcia Pauline Fujita Erich Weiler Kate Rosenbloom

Hiram Clawson Luvina Guruvadoo Gary Moro Steve Heitner Galt Barber

Brian Raney Brian Lee

Max Haeussler Jonathan Caspar Matt Speir

THE GB TEAM

UC Santa Cruz Genomics Institute

Funding Sources

National Human Genome Research Institute (NHGRI)

National Cancer Institute (NCI)

National Institute for Dental and Cranio-Facial Research (NIDCR)

National Institute for Child Health and Human Development (NICHD)

QB3 (UCBerkeley UCSF UCSC)

American Recovery and Reinvestment Act (ARRA) stimulus funds

UC Santa Cruz Genomics Institute

genomeucscedu

THANK YOU

UC Santa Cruz Genomics Institute

   

Exercises 1 Load example BED and VCF tracks via url 2 Look at custom track data by pasting url into a

web browser 3 Annotate the TFBS custom track using the Data

Integrator 4 Annotate the VCF custom track using the Variant

Annotation Integrator

   

     

Exercise 1 Load example BED and VCF tracks via url

1 Go to the Custom tracks menu bull My Data -gt Custom Tracks

2 Input this url httpbitlycustomtracks (note that you must include the rdquohttprdquo part of this url or you will get an error) and click [submit]

3 Click the [Go to genome browser] button 4 Once in the main Browser jump to this position

bull chr2133034804-33037719 5 See if you can drag your 2 custom tracks to the top of

the display

Exercise 2 Exploring your BED and VCF tracks

1 Now that you have 2 custom tracks loaded take a look at the data by pasting that same url into a web browser

2 These custom tracks are actually data copied from some existing tracks see if you can find them turn them on and observe that the original tracks and custom tracks look the same in the browser bull Track 1 (BED format) Group (Regulation) Super

Track (ENC TF Binding) Track (SYDH TFBS) bull Track 2 (VCF format) Group (Variation) Track

(1000G Ph1 Vars) 3 Navigate to this position for best comparison (esp for the

VCF track) chr2133034804-33037719

   

   

Exercise 3 Annotate your BED with the Data Integrator

1 Go to the Data Integrator 2 Once there select

1 Region to annotate chr2133031597-33041570 2 Add data source group (custom tracks) track (SYDHhellip) [click

add]3 Now choose which annotations you want to add by [add]ing more

tracks to the list ndash ex 1 Find the genes that overlap with your regions group (Genes and

Gene Prediction) track (GENCODE V19) view (Genes)subtrack (Basic) [add]

2 Find the SNPs that overlap with your regions group (Variation)track (Common SNPs) [add]

Choose which fields to include in your outputOutput options -gt Choose fields [Done] -gt [get output]

   

   

   

Exercise 4 Annotate your VCF with the

Variant Annotation Integrator

1 Go to the Variant Annotation Integratorbull Tools -gt VAI

2 Select Variants bull Variants ldquoVCF Ex 1helliprdquo

3 Now choose which annotations you want to addbull To determine which gene regions your variants fall into select a

gene track (Select Genes = ldquoBasic Gene Annotation SethellipGENCODErdquo)

bull Add regulatory annotations Under ldquoSelect Regulatory Annotationsrdquo click the ldquo+rdquo button to choose which TFs to include (or select none to include all binding sites)

Bonus Material

Where to search genomeucsceducgi-binhgGateway

Where to search genomeucsceducgi-binhgGateway

Where to search Main Browser genomeucsceducgi-binhgTracks

Public Hubs

My Data Track Hubs

Where to search genomeucsceducgi-binhgHubConnect

Track search

Track search

Track search

Page 15: Visualizing ENCODE Data in the UCSC Genome Browser · Variant Annotation Integrator 1. Go to the Variant Annotation Integrator • Tools -> V.A.I. 2. Select Variants: • Variants:

ENCODE Experiment Matrix

ENCODE ChIP-Seq Matrix

ENCODE Experiment Summary

ENCODE Track Search

AAGGACTGAACTCAGGCAGAGTCCAAGAGTCGCAG

GAAC

CTT

TCGA

TCTCCT

File Formats Scale chr2

GM12878 Ht 2 GM12878 Pk 2

2 kb hg19191876000 191877000 191878000 191879000 191880000 191881000

Basic Gene Annotation Set from GENCODE Version 19

DNaseI Hypersensitivity by Digital DNaseI from ENCODEUniversity of Washington

GM12878 DNaseI HS Raw Signal Rep 2 from ENCODEUW

K562 TFBS Uniform Peaks of Znf143_(16618-1-AP) from ENCODEStanfordAnalysisK562 Znf143 IgG-rab ChIP-seq Peaks from ENCODESYDH K562 Znf143 IgG-rab ChIP-seq Signal from ENCODESYDH

K562 polyA+ IFNa30 RNA-seq Alignments from ENCODESYDH

Exome Aggregation Consortium (ExAC) - Variants from 60706 Exomes

STAT1 STAT1 STAT1 STAT1 STAT1

AG

-

TC CT TC G

CT

GM12878 Sg 2 100 _

1 _

K562 Z143 IgR 40 _

3 _

bitlyfileformatsession

BED

wig(gle)

BAM

VCF

Scalechr2

GM12878 Ht 2GM12878 Pk 2

2 kb191876000 191877000

STAT1STAT1STAT1STAT1STAT1

AGGAAC

CTT-

TCGATCCTTCGAAGGACTGAACTCAGGCAGAGTCCAAGAGTCGCAG

CTTCTCCT

GM12878 Sg 2100 _

1 _

K562 Z143 IgR40 _

3 _

File Formats hg19

191878000 191879000 191880000 191881000Basic Gene Annotation Set from GENCODE Version 19

DNaseI Hypersensitivity by Digital DNaseI from ENCODEUniversity of Washington

GM12878 DNaseI HS Raw Signal Rep 2 from ENCODEUW

K562 TFBS Uniform Peaks of Znf143_(16618-1-AP) from ENCODEStanfordAnalysisK562 Znf143 IgG-rab ChIP-seq Peaks from ENCODESYDH K562 Znf143 IgG-rab ChIP-seq Signal from ENCODESYDH

K562 polyA+ IFNa30 RNA-seq Alignments from ENCODESYDH

Exome Aggregation Consortium (ExAC) - Variants from 60706 Exomes

BED

wig(gle)

BAM

VCF

Positional annotations (ex Regions w enriched ChIP-seq signal for TF binding Δrsquol methylation splice jxns from RNA-seq) Continuous signal data of reads (ex DNase I HS and ChIP-seq signals)

Alignments of seq reads mapped to genome (ex RNA-seq alignments)

Variation data SNPs indels Copy Number Variants Structural Variants (ex ExAC data)

Scalechr2

GM12878 Ht 2GM12878 Pk 2

2 kb191876000 191877000

STAT1STAT1STAT1STAT1STAT1

AGGAAC

CTT-

TCGATCCTTCGAAGGACTGAACTCAGGCAGAGTCCAAGAGTCGCAG

CTTCTCCT

GM12878 Sg 2100 _

1 _

K562 Z143 IgR40 _

3 _

DNaseI Hypersensitivity by Digital DNaseI from ENCODEUniversity of Washington

K562 Znf143 IgG-rab ChIP-seq Peaks from ENCODESYDH

K562 polyA+ IFNa30 RNA-seq Alignments from ENCODESYDH

191879000

Indexed File Formats 191878000

Basic Gene Annotation Set from GENCODE Version 19

GM12878 DNaseI HS Raw Signal Rep 2 from ENCODEUW

K562 TFBS Uniform Peaks of Znf143_(16618-1-AP) from ENCODEStanfordAnalysis

K562 Znf143 IgG-rab ChIP-seq Signal from ENCODESYDH

Exome Aggregation Consortium (ExAC) - Variants from 60706 Exomes

hg19191880000 191881000

BED bigBed

wig(gle) bigWig

BAM

VCF

   

  

Indexed File Formats

bull Only displayed portions of files transferred to UCSC

bull Display large files (would time out) bull File + index on your web-accessible

server (http https or ftp)bull Faster display bull More user control

File Formats

File Formats

File Formats

File Formats wwwencodeprojectorghelpfile-formats

Help File formats

Custom Tracks

Custom Tracks genomeucsceducgi-binhgCustom

Custom Tracks genomeucsceducgi-binhgCustom

track name=rdquoBED_custom_trackrdquo13 chr7 127471196 127472363 Gene1

Annotating your data BED

Tools Data Integrator

Data Integrator genomeucsceducgi-binhgIntegrator

Data Integrator

Data Integrator

httpgenomeucsceducgi-binhgIntegratorhgsid=43297266

1 of 1 62615 320 PM

Data Integrator ct_SYDHTFBS_4733chrom ct_SYDHTFBS_4733chromStart ct_SYDHTFBS_4733chromEnd ct_SYDHTFBS_4733name ct_SYDHTFBS_4733score wgEncodeGencodeBasicV19name wgEncodeGencodeBasicV19name2chr21 33031473 33032186 608 ENST000004493391 AP0002531 chr21 33031473 33032186 608 ENST000002701426 SOD1 chr21 33031473 33032186 608 ENST000003899954 SOD1 chr21 33031473 33032186 608 ENST000004709441 SOD1

       

Annotating your VCF file

1 Make a VCF custom track 2 Go to the Variant Annotation Integrator 3 Choose your track 4 Add annotations

   

Remotely Hosted Custom Tracks bull Put data file (bigBedbigWigBAMVCF etc)

in internet accessible location bull Must have 1 track info 2 bigDataUrl bull VCF example

track type=vcfTabix name=VCF_Example description=VCF Ex 1 1000 Genomes phase 1interim SNVs bigDataUrl= httphgwdevcseucscedu~paulinepresentationsvcfExamplevcfgz

  

Variant Annotation Integrator13

bull Upload pgSnp or VCF custom track13 bull Associate UCSC annotations with your

uploaded variant calls13 bull Add dbSNP info if dbSNP identifier

found13 bull Select custom track and VAI options13

3713

Variant Annotation Integrator13

Tools Variant Annotation Integrator

Variant Annotation Integrator13 genomeucsceducgi-binhgVai

   

  

Track Data Hubs 13

bull Remotely hosted13 bull Data persistence13 bull File formats 13

bigBED bigWig BAM VCF13 bull Track organization 13

groups supertracks13 bull multiWigs13 bull Assembly hubs13

Track Hubs

My Data Track Hubs

Track Hubs genomeucsceducgi-binhgHubConnect

My Data Track Hubs

My Hubs genomeucsceducgi-binhgHubConnect

My Data Track Hubs

   

Make Your Own Track Hub

You will need bull Data (compressed binary index formats

bigBed bigWig BAM VCF) bull Text files to define properties of the

track hub bull Internet-enabled webftp server bull Assembly Hubs

a twoBit sequence file

Track Hubs genomeucsceducgi-binhgHubConnect

My Data Track Hubs

myHub - directory containing track hub files

hubtxt - a short description of hub properties

genomestxt - list of genome assemblies included

hg19 - directory of data for the hg19 human assembly

Data files BAM bigBed bigWig VCF

An Example Assembly Hub

An Arabidopsis hub13 httpgenome-testcseucscedu

~paulinehubsPlantshubtxt13 13

131313

13

1313

     

Acknowledgements UCSC Genome Browser team

ndash David Haussler ndash co-PI ndash Jim Kent ndash Browser Concept BLAT Team Leader PI ndash Bob Kuhn ndash Associate Director Outreach ndash co-PI ndash Donna Karolchik Ann Zweig ndash Project Management

Engineering QA Docs Support Sys-admins

Angie Hinrichs Katrina Learned Jorge Garcia Pauline Fujita Erich Weiler Kate Rosenbloom

Hiram Clawson Luvina Guruvadoo Gary Moro Steve Heitner Galt Barber

Brian Raney Brian Lee

Max Haeussler Jonathan Caspar Matt Speir

THE GB TEAM

UC Santa Cruz Genomics Institute

Funding Sources

National Human Genome Research Institute (NHGRI)

National Cancer Institute (NCI)

National Institute for Dental and Cranio-Facial Research (NIDCR)

National Institute for Child Health and Human Development (NICHD)

QB3 (UCBerkeley UCSF UCSC)

American Recovery and Reinvestment Act (ARRA) stimulus funds

UC Santa Cruz Genomics Institute

genomeucscedu

THANK YOU

UC Santa Cruz Genomics Institute

   

Exercises 1 Load example BED and VCF tracks via url 2 Look at custom track data by pasting url into a

web browser 3 Annotate the TFBS custom track using the Data

Integrator 4 Annotate the VCF custom track using the Variant

Annotation Integrator

   

     

Exercise 1 Load example BED and VCF tracks via url

1 Go to the Custom tracks menu bull My Data -gt Custom Tracks

2 Input this url httpbitlycustomtracks (note that you must include the rdquohttprdquo part of this url or you will get an error) and click [submit]

3 Click the [Go to genome browser] button 4 Once in the main Browser jump to this position

bull chr2133034804-33037719 5 See if you can drag your 2 custom tracks to the top of

the display

Exercise 2 Exploring your BED and VCF tracks

1 Now that you have 2 custom tracks loaded take a look at the data by pasting that same url into a web browser

2 These custom tracks are actually data copied from some existing tracks see if you can find them turn them on and observe that the original tracks and custom tracks look the same in the browser bull Track 1 (BED format) Group (Regulation) Super

Track (ENC TF Binding) Track (SYDH TFBS) bull Track 2 (VCF format) Group (Variation) Track

(1000G Ph1 Vars) 3 Navigate to this position for best comparison (esp for the

VCF track) chr2133034804-33037719

   

   

Exercise 3 Annotate your BED with the Data Integrator

1 Go to the Data Integrator 2 Once there select

1 Region to annotate chr2133031597-33041570 2 Add data source group (custom tracks) track (SYDHhellip) [click

add]3 Now choose which annotations you want to add by [add]ing more

tracks to the list ndash ex 1 Find the genes that overlap with your regions group (Genes and

Gene Prediction) track (GENCODE V19) view (Genes)subtrack (Basic) [add]

2 Find the SNPs that overlap with your regions group (Variation)track (Common SNPs) [add]

Choose which fields to include in your outputOutput options -gt Choose fields [Done] -gt [get output]

   

   

   

Exercise 4 Annotate your VCF with the

Variant Annotation Integrator

1 Go to the Variant Annotation Integratorbull Tools -gt VAI

2 Select Variants bull Variants ldquoVCF Ex 1helliprdquo

3 Now choose which annotations you want to addbull To determine which gene regions your variants fall into select a

gene track (Select Genes = ldquoBasic Gene Annotation SethellipGENCODErdquo)

bull Add regulatory annotations Under ldquoSelect Regulatory Annotationsrdquo click the ldquo+rdquo button to choose which TFs to include (or select none to include all binding sites)

Bonus Material

Where to search genomeucsceducgi-binhgGateway

Where to search genomeucsceducgi-binhgGateway

Where to search Main Browser genomeucsceducgi-binhgTracks

Public Hubs

My Data Track Hubs

Where to search genomeucsceducgi-binhgHubConnect

Track search

Track search

Track search

Page 16: Visualizing ENCODE Data in the UCSC Genome Browser · Variant Annotation Integrator 1. Go to the Variant Annotation Integrator • Tools -> V.A.I. 2. Select Variants: • Variants:

ENCODE ChIP-Seq Matrix

ENCODE Experiment Summary

ENCODE Track Search

AAGGACTGAACTCAGGCAGAGTCCAAGAGTCGCAG

GAAC

CTT

TCGA

TCTCCT

File Formats Scale chr2

GM12878 Ht 2 GM12878 Pk 2

2 kb hg19191876000 191877000 191878000 191879000 191880000 191881000

Basic Gene Annotation Set from GENCODE Version 19

DNaseI Hypersensitivity by Digital DNaseI from ENCODEUniversity of Washington

GM12878 DNaseI HS Raw Signal Rep 2 from ENCODEUW

K562 TFBS Uniform Peaks of Znf143_(16618-1-AP) from ENCODEStanfordAnalysisK562 Znf143 IgG-rab ChIP-seq Peaks from ENCODESYDH K562 Znf143 IgG-rab ChIP-seq Signal from ENCODESYDH

K562 polyA+ IFNa30 RNA-seq Alignments from ENCODESYDH

Exome Aggregation Consortium (ExAC) - Variants from 60706 Exomes

STAT1 STAT1 STAT1 STAT1 STAT1

AG

-

TC CT TC G

CT

GM12878 Sg 2 100 _

1 _

K562 Z143 IgR 40 _

3 _

bitlyfileformatsession

BED

wig(gle)

BAM

VCF

Scalechr2

GM12878 Ht 2GM12878 Pk 2

2 kb191876000 191877000

STAT1STAT1STAT1STAT1STAT1

AGGAAC

CTT-

TCGATCCTTCGAAGGACTGAACTCAGGCAGAGTCCAAGAGTCGCAG

CTTCTCCT

GM12878 Sg 2100 _

1 _

K562 Z143 IgR40 _

3 _

File Formats hg19

191878000 191879000 191880000 191881000Basic Gene Annotation Set from GENCODE Version 19

DNaseI Hypersensitivity by Digital DNaseI from ENCODEUniversity of Washington

GM12878 DNaseI HS Raw Signal Rep 2 from ENCODEUW

K562 TFBS Uniform Peaks of Znf143_(16618-1-AP) from ENCODEStanfordAnalysisK562 Znf143 IgG-rab ChIP-seq Peaks from ENCODESYDH K562 Znf143 IgG-rab ChIP-seq Signal from ENCODESYDH

K562 polyA+ IFNa30 RNA-seq Alignments from ENCODESYDH

Exome Aggregation Consortium (ExAC) - Variants from 60706 Exomes

BED

wig(gle)

BAM

VCF

Positional annotations (ex Regions w enriched ChIP-seq signal for TF binding Δrsquol methylation splice jxns from RNA-seq) Continuous signal data of reads (ex DNase I HS and ChIP-seq signals)

Alignments of seq reads mapped to genome (ex RNA-seq alignments)

Variation data SNPs indels Copy Number Variants Structural Variants (ex ExAC data)

Scalechr2

GM12878 Ht 2GM12878 Pk 2

2 kb191876000 191877000

STAT1STAT1STAT1STAT1STAT1

AGGAAC

CTT-

TCGATCCTTCGAAGGACTGAACTCAGGCAGAGTCCAAGAGTCGCAG

CTTCTCCT

GM12878 Sg 2100 _

1 _

K562 Z143 IgR40 _

3 _

DNaseI Hypersensitivity by Digital DNaseI from ENCODEUniversity of Washington

K562 Znf143 IgG-rab ChIP-seq Peaks from ENCODESYDH

K562 polyA+ IFNa30 RNA-seq Alignments from ENCODESYDH

191879000

Indexed File Formats 191878000

Basic Gene Annotation Set from GENCODE Version 19

GM12878 DNaseI HS Raw Signal Rep 2 from ENCODEUW

K562 TFBS Uniform Peaks of Znf143_(16618-1-AP) from ENCODEStanfordAnalysis

K562 Znf143 IgG-rab ChIP-seq Signal from ENCODESYDH

Exome Aggregation Consortium (ExAC) - Variants from 60706 Exomes

hg19191880000 191881000

BED bigBed

wig(gle) bigWig

BAM

VCF

   

  

Indexed File Formats

bull Only displayed portions of files transferred to UCSC

bull Display large files (would time out) bull File + index on your web-accessible

server (http https or ftp)bull Faster display bull More user control

File Formats

File Formats

File Formats

File Formats wwwencodeprojectorghelpfile-formats

Help File formats

Custom Tracks

Custom Tracks genomeucsceducgi-binhgCustom

Custom Tracks genomeucsceducgi-binhgCustom

track name=rdquoBED_custom_trackrdquo13 chr7 127471196 127472363 Gene1

Annotating your data BED

Tools Data Integrator

Data Integrator genomeucsceducgi-binhgIntegrator

Data Integrator

Data Integrator

httpgenomeucsceducgi-binhgIntegratorhgsid=43297266

1 of 1 62615 320 PM

Data Integrator ct_SYDHTFBS_4733chrom ct_SYDHTFBS_4733chromStart ct_SYDHTFBS_4733chromEnd ct_SYDHTFBS_4733name ct_SYDHTFBS_4733score wgEncodeGencodeBasicV19name wgEncodeGencodeBasicV19name2chr21 33031473 33032186 608 ENST000004493391 AP0002531 chr21 33031473 33032186 608 ENST000002701426 SOD1 chr21 33031473 33032186 608 ENST000003899954 SOD1 chr21 33031473 33032186 608 ENST000004709441 SOD1

       

Annotating your VCF file

1 Make a VCF custom track 2 Go to the Variant Annotation Integrator 3 Choose your track 4 Add annotations

   

Remotely Hosted Custom Tracks bull Put data file (bigBedbigWigBAMVCF etc)

in internet accessible location bull Must have 1 track info 2 bigDataUrl bull VCF example

track type=vcfTabix name=VCF_Example description=VCF Ex 1 1000 Genomes phase 1interim SNVs bigDataUrl= httphgwdevcseucscedu~paulinepresentationsvcfExamplevcfgz

  

Variant Annotation Integrator13

bull Upload pgSnp or VCF custom track13 bull Associate UCSC annotations with your

uploaded variant calls13 bull Add dbSNP info if dbSNP identifier

found13 bull Select custom track and VAI options13

3713

Variant Annotation Integrator13

Tools Variant Annotation Integrator

Variant Annotation Integrator13 genomeucsceducgi-binhgVai

   

  

Track Data Hubs 13

bull Remotely hosted13 bull Data persistence13 bull File formats 13

bigBED bigWig BAM VCF13 bull Track organization 13

groups supertracks13 bull multiWigs13 bull Assembly hubs13

Track Hubs

My Data Track Hubs

Track Hubs genomeucsceducgi-binhgHubConnect

My Data Track Hubs

My Hubs genomeucsceducgi-binhgHubConnect

My Data Track Hubs

   

Make Your Own Track Hub

You will need bull Data (compressed binary index formats

bigBed bigWig BAM VCF) bull Text files to define properties of the

track hub bull Internet-enabled webftp server bull Assembly Hubs

a twoBit sequence file

Track Hubs genomeucsceducgi-binhgHubConnect

My Data Track Hubs

myHub - directory containing track hub files

hubtxt - a short description of hub properties

genomestxt - list of genome assemblies included

hg19 - directory of data for the hg19 human assembly

Data files BAM bigBed bigWig VCF

An Example Assembly Hub

An Arabidopsis hub13 httpgenome-testcseucscedu

~paulinehubsPlantshubtxt13 13

131313

13

1313

     

Acknowledgements UCSC Genome Browser team

ndash David Haussler ndash co-PI ndash Jim Kent ndash Browser Concept BLAT Team Leader PI ndash Bob Kuhn ndash Associate Director Outreach ndash co-PI ndash Donna Karolchik Ann Zweig ndash Project Management

Engineering QA Docs Support Sys-admins

Angie Hinrichs Katrina Learned Jorge Garcia Pauline Fujita Erich Weiler Kate Rosenbloom

Hiram Clawson Luvina Guruvadoo Gary Moro Steve Heitner Galt Barber

Brian Raney Brian Lee

Max Haeussler Jonathan Caspar Matt Speir

THE GB TEAM

UC Santa Cruz Genomics Institute

Funding Sources

National Human Genome Research Institute (NHGRI)

National Cancer Institute (NCI)

National Institute for Dental and Cranio-Facial Research (NIDCR)

National Institute for Child Health and Human Development (NICHD)

QB3 (UCBerkeley UCSF UCSC)

American Recovery and Reinvestment Act (ARRA) stimulus funds

UC Santa Cruz Genomics Institute

genomeucscedu

THANK YOU

UC Santa Cruz Genomics Institute

   

Exercises 1 Load example BED and VCF tracks via url 2 Look at custom track data by pasting url into a

web browser 3 Annotate the TFBS custom track using the Data

Integrator 4 Annotate the VCF custom track using the Variant

Annotation Integrator

   

     

Exercise 1 Load example BED and VCF tracks via url

1 Go to the Custom tracks menu bull My Data -gt Custom Tracks

2 Input this url httpbitlycustomtracks (note that you must include the rdquohttprdquo part of this url or you will get an error) and click [submit]

3 Click the [Go to genome browser] button 4 Once in the main Browser jump to this position

bull chr2133034804-33037719 5 See if you can drag your 2 custom tracks to the top of

the display

Exercise 2 Exploring your BED and VCF tracks

1 Now that you have 2 custom tracks loaded take a look at the data by pasting that same url into a web browser

2 These custom tracks are actually data copied from some existing tracks see if you can find them turn them on and observe that the original tracks and custom tracks look the same in the browser bull Track 1 (BED format) Group (Regulation) Super

Track (ENC TF Binding) Track (SYDH TFBS) bull Track 2 (VCF format) Group (Variation) Track

(1000G Ph1 Vars) 3 Navigate to this position for best comparison (esp for the

VCF track) chr2133034804-33037719

   

   

Exercise 3 Annotate your BED with the Data Integrator

1 Go to the Data Integrator 2 Once there select

1 Region to annotate chr2133031597-33041570 2 Add data source group (custom tracks) track (SYDHhellip) [click

add]3 Now choose which annotations you want to add by [add]ing more

tracks to the list ndash ex 1 Find the genes that overlap with your regions group (Genes and

Gene Prediction) track (GENCODE V19) view (Genes)subtrack (Basic) [add]

2 Find the SNPs that overlap with your regions group (Variation)track (Common SNPs) [add]

Choose which fields to include in your outputOutput options -gt Choose fields [Done] -gt [get output]

   

   

   

Exercise 4 Annotate your VCF with the

Variant Annotation Integrator

1 Go to the Variant Annotation Integratorbull Tools -gt VAI

2 Select Variants bull Variants ldquoVCF Ex 1helliprdquo

3 Now choose which annotations you want to addbull To determine which gene regions your variants fall into select a

gene track (Select Genes = ldquoBasic Gene Annotation SethellipGENCODErdquo)

bull Add regulatory annotations Under ldquoSelect Regulatory Annotationsrdquo click the ldquo+rdquo button to choose which TFs to include (or select none to include all binding sites)

Bonus Material

Where to search genomeucsceducgi-binhgGateway

Where to search genomeucsceducgi-binhgGateway

Where to search Main Browser genomeucsceducgi-binhgTracks

Public Hubs

My Data Track Hubs

Where to search genomeucsceducgi-binhgHubConnect

Track search

Track search

Track search

Page 17: Visualizing ENCODE Data in the UCSC Genome Browser · Variant Annotation Integrator 1. Go to the Variant Annotation Integrator • Tools -> V.A.I. 2. Select Variants: • Variants:

ENCODE Experiment Summary

ENCODE Track Search

AAGGACTGAACTCAGGCAGAGTCCAAGAGTCGCAG

GAAC

CTT

TCGA

TCTCCT

File Formats Scale chr2

GM12878 Ht 2 GM12878 Pk 2

2 kb hg19191876000 191877000 191878000 191879000 191880000 191881000

Basic Gene Annotation Set from GENCODE Version 19

DNaseI Hypersensitivity by Digital DNaseI from ENCODEUniversity of Washington

GM12878 DNaseI HS Raw Signal Rep 2 from ENCODEUW

K562 TFBS Uniform Peaks of Znf143_(16618-1-AP) from ENCODEStanfordAnalysisK562 Znf143 IgG-rab ChIP-seq Peaks from ENCODESYDH K562 Znf143 IgG-rab ChIP-seq Signal from ENCODESYDH

K562 polyA+ IFNa30 RNA-seq Alignments from ENCODESYDH

Exome Aggregation Consortium (ExAC) - Variants from 60706 Exomes

STAT1 STAT1 STAT1 STAT1 STAT1

AG

-

TC CT TC G

CT

GM12878 Sg 2 100 _

1 _

K562 Z143 IgR 40 _

3 _

bitlyfileformatsession

BED

wig(gle)

BAM

VCF

Scalechr2

GM12878 Ht 2GM12878 Pk 2

2 kb191876000 191877000

STAT1STAT1STAT1STAT1STAT1

AGGAAC

CTT-

TCGATCCTTCGAAGGACTGAACTCAGGCAGAGTCCAAGAGTCGCAG

CTTCTCCT

GM12878 Sg 2100 _

1 _

K562 Z143 IgR40 _

3 _

File Formats hg19

191878000 191879000 191880000 191881000Basic Gene Annotation Set from GENCODE Version 19

DNaseI Hypersensitivity by Digital DNaseI from ENCODEUniversity of Washington

GM12878 DNaseI HS Raw Signal Rep 2 from ENCODEUW

K562 TFBS Uniform Peaks of Znf143_(16618-1-AP) from ENCODEStanfordAnalysisK562 Znf143 IgG-rab ChIP-seq Peaks from ENCODESYDH K562 Znf143 IgG-rab ChIP-seq Signal from ENCODESYDH

K562 polyA+ IFNa30 RNA-seq Alignments from ENCODESYDH

Exome Aggregation Consortium (ExAC) - Variants from 60706 Exomes

BED

wig(gle)

BAM

VCF

Positional annotations (ex Regions w enriched ChIP-seq signal for TF binding Δrsquol methylation splice jxns from RNA-seq) Continuous signal data of reads (ex DNase I HS and ChIP-seq signals)

Alignments of seq reads mapped to genome (ex RNA-seq alignments)

Variation data SNPs indels Copy Number Variants Structural Variants (ex ExAC data)

Scalechr2

GM12878 Ht 2GM12878 Pk 2

2 kb191876000 191877000

STAT1STAT1STAT1STAT1STAT1

AGGAAC

CTT-

TCGATCCTTCGAAGGACTGAACTCAGGCAGAGTCCAAGAGTCGCAG

CTTCTCCT

GM12878 Sg 2100 _

1 _

K562 Z143 IgR40 _

3 _

DNaseI Hypersensitivity by Digital DNaseI from ENCODEUniversity of Washington

K562 Znf143 IgG-rab ChIP-seq Peaks from ENCODESYDH

K562 polyA+ IFNa30 RNA-seq Alignments from ENCODESYDH

191879000

Indexed File Formats 191878000

Basic Gene Annotation Set from GENCODE Version 19

GM12878 DNaseI HS Raw Signal Rep 2 from ENCODEUW

K562 TFBS Uniform Peaks of Znf143_(16618-1-AP) from ENCODEStanfordAnalysis

K562 Znf143 IgG-rab ChIP-seq Signal from ENCODESYDH

Exome Aggregation Consortium (ExAC) - Variants from 60706 Exomes

hg19191880000 191881000

BED bigBed

wig(gle) bigWig

BAM

VCF

   

  

Indexed File Formats

bull Only displayed portions of files transferred to UCSC

bull Display large files (would time out) bull File + index on your web-accessible

server (http https or ftp)bull Faster display bull More user control

File Formats

File Formats

File Formats

File Formats wwwencodeprojectorghelpfile-formats

Help File formats

Custom Tracks

Custom Tracks genomeucsceducgi-binhgCustom

Custom Tracks genomeucsceducgi-binhgCustom

track name=rdquoBED_custom_trackrdquo13 chr7 127471196 127472363 Gene1

Annotating your data BED

Tools Data Integrator

Data Integrator genomeucsceducgi-binhgIntegrator

Data Integrator

Data Integrator

httpgenomeucsceducgi-binhgIntegratorhgsid=43297266

1 of 1 62615 320 PM

Data Integrator ct_SYDHTFBS_4733chrom ct_SYDHTFBS_4733chromStart ct_SYDHTFBS_4733chromEnd ct_SYDHTFBS_4733name ct_SYDHTFBS_4733score wgEncodeGencodeBasicV19name wgEncodeGencodeBasicV19name2chr21 33031473 33032186 608 ENST000004493391 AP0002531 chr21 33031473 33032186 608 ENST000002701426 SOD1 chr21 33031473 33032186 608 ENST000003899954 SOD1 chr21 33031473 33032186 608 ENST000004709441 SOD1

       

Annotating your VCF file

1 Make a VCF custom track 2 Go to the Variant Annotation Integrator 3 Choose your track 4 Add annotations

   

Remotely Hosted Custom Tracks bull Put data file (bigBedbigWigBAMVCF etc)

in internet accessible location bull Must have 1 track info 2 bigDataUrl bull VCF example

track type=vcfTabix name=VCF_Example description=VCF Ex 1 1000 Genomes phase 1interim SNVs bigDataUrl= httphgwdevcseucscedu~paulinepresentationsvcfExamplevcfgz

  

Variant Annotation Integrator13

bull Upload pgSnp or VCF custom track13 bull Associate UCSC annotations with your

uploaded variant calls13 bull Add dbSNP info if dbSNP identifier

found13 bull Select custom track and VAI options13

3713

Variant Annotation Integrator13

Tools Variant Annotation Integrator

Variant Annotation Integrator13 genomeucsceducgi-binhgVai

   

  

Track Data Hubs 13

bull Remotely hosted13 bull Data persistence13 bull File formats 13

bigBED bigWig BAM VCF13 bull Track organization 13

groups supertracks13 bull multiWigs13 bull Assembly hubs13

Track Hubs

My Data Track Hubs

Track Hubs genomeucsceducgi-binhgHubConnect

My Data Track Hubs

My Hubs genomeucsceducgi-binhgHubConnect

My Data Track Hubs

   

Make Your Own Track Hub

You will need bull Data (compressed binary index formats

bigBed bigWig BAM VCF) bull Text files to define properties of the

track hub bull Internet-enabled webftp server bull Assembly Hubs

a twoBit sequence file

Track Hubs genomeucsceducgi-binhgHubConnect

My Data Track Hubs

myHub - directory containing track hub files

hubtxt - a short description of hub properties

genomestxt - list of genome assemblies included

hg19 - directory of data for the hg19 human assembly

Data files BAM bigBed bigWig VCF

An Example Assembly Hub

An Arabidopsis hub13 httpgenome-testcseucscedu

~paulinehubsPlantshubtxt13 13

131313

13

1313

     

Acknowledgements UCSC Genome Browser team

ndash David Haussler ndash co-PI ndash Jim Kent ndash Browser Concept BLAT Team Leader PI ndash Bob Kuhn ndash Associate Director Outreach ndash co-PI ndash Donna Karolchik Ann Zweig ndash Project Management

Engineering QA Docs Support Sys-admins

Angie Hinrichs Katrina Learned Jorge Garcia Pauline Fujita Erich Weiler Kate Rosenbloom

Hiram Clawson Luvina Guruvadoo Gary Moro Steve Heitner Galt Barber

Brian Raney Brian Lee

Max Haeussler Jonathan Caspar Matt Speir

THE GB TEAM

UC Santa Cruz Genomics Institute

Funding Sources

National Human Genome Research Institute (NHGRI)

National Cancer Institute (NCI)

National Institute for Dental and Cranio-Facial Research (NIDCR)

National Institute for Child Health and Human Development (NICHD)

QB3 (UCBerkeley UCSF UCSC)

American Recovery and Reinvestment Act (ARRA) stimulus funds

UC Santa Cruz Genomics Institute

genomeucscedu

THANK YOU

UC Santa Cruz Genomics Institute

   

Exercises 1 Load example BED and VCF tracks via url 2 Look at custom track data by pasting url into a

web browser 3 Annotate the TFBS custom track using the Data

Integrator 4 Annotate the VCF custom track using the Variant

Annotation Integrator

   

     

Exercise 1 Load example BED and VCF tracks via url

1 Go to the Custom tracks menu bull My Data -gt Custom Tracks

2 Input this url httpbitlycustomtracks (note that you must include the rdquohttprdquo part of this url or you will get an error) and click [submit]

3 Click the [Go to genome browser] button 4 Once in the main Browser jump to this position

bull chr2133034804-33037719 5 See if you can drag your 2 custom tracks to the top of

the display

Exercise 2 Exploring your BED and VCF tracks

1 Now that you have 2 custom tracks loaded take a look at the data by pasting that same url into a web browser

2 These custom tracks are actually data copied from some existing tracks see if you can find them turn them on and observe that the original tracks and custom tracks look the same in the browser bull Track 1 (BED format) Group (Regulation) Super

Track (ENC TF Binding) Track (SYDH TFBS) bull Track 2 (VCF format) Group (Variation) Track

(1000G Ph1 Vars) 3 Navigate to this position for best comparison (esp for the

VCF track) chr2133034804-33037719

   

   

Exercise 3 Annotate your BED with the Data Integrator

1 Go to the Data Integrator 2 Once there select

1 Region to annotate chr2133031597-33041570 2 Add data source group (custom tracks) track (SYDHhellip) [click

add]3 Now choose which annotations you want to add by [add]ing more

tracks to the list ndash ex 1 Find the genes that overlap with your regions group (Genes and

Gene Prediction) track (GENCODE V19) view (Genes)subtrack (Basic) [add]

2 Find the SNPs that overlap with your regions group (Variation)track (Common SNPs) [add]

Choose which fields to include in your outputOutput options -gt Choose fields [Done] -gt [get output]

   

   

   

Exercise 4 Annotate your VCF with the

Variant Annotation Integrator

1 Go to the Variant Annotation Integratorbull Tools -gt VAI

2 Select Variants bull Variants ldquoVCF Ex 1helliprdquo

3 Now choose which annotations you want to addbull To determine which gene regions your variants fall into select a

gene track (Select Genes = ldquoBasic Gene Annotation SethellipGENCODErdquo)

bull Add regulatory annotations Under ldquoSelect Regulatory Annotationsrdquo click the ldquo+rdquo button to choose which TFs to include (or select none to include all binding sites)

Bonus Material

Where to search genomeucsceducgi-binhgGateway

Where to search genomeucsceducgi-binhgGateway

Where to search Main Browser genomeucsceducgi-binhgTracks

Public Hubs

My Data Track Hubs

Where to search genomeucsceducgi-binhgHubConnect

Track search

Track search

Track search

Page 18: Visualizing ENCODE Data in the UCSC Genome Browser · Variant Annotation Integrator 1. Go to the Variant Annotation Integrator • Tools -> V.A.I. 2. Select Variants: • Variants:

ENCODE Track Search

AAGGACTGAACTCAGGCAGAGTCCAAGAGTCGCAG

GAAC

CTT

TCGA

TCTCCT

File Formats Scale chr2

GM12878 Ht 2 GM12878 Pk 2

2 kb hg19191876000 191877000 191878000 191879000 191880000 191881000

Basic Gene Annotation Set from GENCODE Version 19

DNaseI Hypersensitivity by Digital DNaseI from ENCODEUniversity of Washington

GM12878 DNaseI HS Raw Signal Rep 2 from ENCODEUW

K562 TFBS Uniform Peaks of Znf143_(16618-1-AP) from ENCODEStanfordAnalysisK562 Znf143 IgG-rab ChIP-seq Peaks from ENCODESYDH K562 Znf143 IgG-rab ChIP-seq Signal from ENCODESYDH

K562 polyA+ IFNa30 RNA-seq Alignments from ENCODESYDH

Exome Aggregation Consortium (ExAC) - Variants from 60706 Exomes

STAT1 STAT1 STAT1 STAT1 STAT1

AG

-

TC CT TC G

CT

GM12878 Sg 2 100 _

1 _

K562 Z143 IgR 40 _

3 _

bitlyfileformatsession

BED

wig(gle)

BAM

VCF

Scalechr2

GM12878 Ht 2GM12878 Pk 2

2 kb191876000 191877000

STAT1STAT1STAT1STAT1STAT1

AGGAAC

CTT-

TCGATCCTTCGAAGGACTGAACTCAGGCAGAGTCCAAGAGTCGCAG

CTTCTCCT

GM12878 Sg 2100 _

1 _

K562 Z143 IgR40 _

3 _

File Formats hg19

191878000 191879000 191880000 191881000Basic Gene Annotation Set from GENCODE Version 19

DNaseI Hypersensitivity by Digital DNaseI from ENCODEUniversity of Washington

GM12878 DNaseI HS Raw Signal Rep 2 from ENCODEUW

K562 TFBS Uniform Peaks of Znf143_(16618-1-AP) from ENCODEStanfordAnalysisK562 Znf143 IgG-rab ChIP-seq Peaks from ENCODESYDH K562 Znf143 IgG-rab ChIP-seq Signal from ENCODESYDH

K562 polyA+ IFNa30 RNA-seq Alignments from ENCODESYDH

Exome Aggregation Consortium (ExAC) - Variants from 60706 Exomes

BED

wig(gle)

BAM

VCF

Positional annotations (ex Regions w enriched ChIP-seq signal for TF binding Δrsquol methylation splice jxns from RNA-seq) Continuous signal data of reads (ex DNase I HS and ChIP-seq signals)

Alignments of seq reads mapped to genome (ex RNA-seq alignments)

Variation data SNPs indels Copy Number Variants Structural Variants (ex ExAC data)

Scalechr2

GM12878 Ht 2GM12878 Pk 2

2 kb191876000 191877000

STAT1STAT1STAT1STAT1STAT1

AGGAAC

CTT-

TCGATCCTTCGAAGGACTGAACTCAGGCAGAGTCCAAGAGTCGCAG

CTTCTCCT

GM12878 Sg 2100 _

1 _

K562 Z143 IgR40 _

3 _

DNaseI Hypersensitivity by Digital DNaseI from ENCODEUniversity of Washington

K562 Znf143 IgG-rab ChIP-seq Peaks from ENCODESYDH

K562 polyA+ IFNa30 RNA-seq Alignments from ENCODESYDH

191879000

Indexed File Formats 191878000

Basic Gene Annotation Set from GENCODE Version 19

GM12878 DNaseI HS Raw Signal Rep 2 from ENCODEUW

K562 TFBS Uniform Peaks of Znf143_(16618-1-AP) from ENCODEStanfordAnalysis

K562 Znf143 IgG-rab ChIP-seq Signal from ENCODESYDH

Exome Aggregation Consortium (ExAC) - Variants from 60706 Exomes

hg19191880000 191881000

BED bigBed

wig(gle) bigWig

BAM

VCF

   

  

Indexed File Formats

bull Only displayed portions of files transferred to UCSC

bull Display large files (would time out) bull File + index on your web-accessible

server (http https or ftp)bull Faster display bull More user control

File Formats

File Formats

File Formats

File Formats wwwencodeprojectorghelpfile-formats

Help File formats

Custom Tracks

Custom Tracks genomeucsceducgi-binhgCustom

Custom Tracks genomeucsceducgi-binhgCustom

track name=rdquoBED_custom_trackrdquo13 chr7 127471196 127472363 Gene1

Annotating your data BED

Tools Data Integrator

Data Integrator genomeucsceducgi-binhgIntegrator

Data Integrator

Data Integrator

httpgenomeucsceducgi-binhgIntegratorhgsid=43297266

1 of 1 62615 320 PM

Data Integrator ct_SYDHTFBS_4733chrom ct_SYDHTFBS_4733chromStart ct_SYDHTFBS_4733chromEnd ct_SYDHTFBS_4733name ct_SYDHTFBS_4733score wgEncodeGencodeBasicV19name wgEncodeGencodeBasicV19name2chr21 33031473 33032186 608 ENST000004493391 AP0002531 chr21 33031473 33032186 608 ENST000002701426 SOD1 chr21 33031473 33032186 608 ENST000003899954 SOD1 chr21 33031473 33032186 608 ENST000004709441 SOD1

       

Annotating your VCF file

1 Make a VCF custom track 2 Go to the Variant Annotation Integrator 3 Choose your track 4 Add annotations

   

Remotely Hosted Custom Tracks bull Put data file (bigBedbigWigBAMVCF etc)

in internet accessible location bull Must have 1 track info 2 bigDataUrl bull VCF example

track type=vcfTabix name=VCF_Example description=VCF Ex 1 1000 Genomes phase 1interim SNVs bigDataUrl= httphgwdevcseucscedu~paulinepresentationsvcfExamplevcfgz

  

Variant Annotation Integrator13

bull Upload pgSnp or VCF custom track13 bull Associate UCSC annotations with your

uploaded variant calls13 bull Add dbSNP info if dbSNP identifier

found13 bull Select custom track and VAI options13

3713

Variant Annotation Integrator13

Tools Variant Annotation Integrator

Variant Annotation Integrator13 genomeucsceducgi-binhgVai

   

  

Track Data Hubs 13

bull Remotely hosted13 bull Data persistence13 bull File formats 13

bigBED bigWig BAM VCF13 bull Track organization 13

groups supertracks13 bull multiWigs13 bull Assembly hubs13

Track Hubs

My Data Track Hubs

Track Hubs genomeucsceducgi-binhgHubConnect

My Data Track Hubs

My Hubs genomeucsceducgi-binhgHubConnect

My Data Track Hubs

   

Make Your Own Track Hub

You will need bull Data (compressed binary index formats

bigBed bigWig BAM VCF) bull Text files to define properties of the

track hub bull Internet-enabled webftp server bull Assembly Hubs

a twoBit sequence file

Track Hubs genomeucsceducgi-binhgHubConnect

My Data Track Hubs

myHub - directory containing track hub files

hubtxt - a short description of hub properties

genomestxt - list of genome assemblies included

hg19 - directory of data for the hg19 human assembly

Data files BAM bigBed bigWig VCF

An Example Assembly Hub

An Arabidopsis hub13 httpgenome-testcseucscedu

~paulinehubsPlantshubtxt13 13

131313

13

1313

     

Acknowledgements UCSC Genome Browser team

ndash David Haussler ndash co-PI ndash Jim Kent ndash Browser Concept BLAT Team Leader PI ndash Bob Kuhn ndash Associate Director Outreach ndash co-PI ndash Donna Karolchik Ann Zweig ndash Project Management

Engineering QA Docs Support Sys-admins

Angie Hinrichs Katrina Learned Jorge Garcia Pauline Fujita Erich Weiler Kate Rosenbloom

Hiram Clawson Luvina Guruvadoo Gary Moro Steve Heitner Galt Barber

Brian Raney Brian Lee

Max Haeussler Jonathan Caspar Matt Speir

THE GB TEAM

UC Santa Cruz Genomics Institute

Funding Sources

National Human Genome Research Institute (NHGRI)

National Cancer Institute (NCI)

National Institute for Dental and Cranio-Facial Research (NIDCR)

National Institute for Child Health and Human Development (NICHD)

QB3 (UCBerkeley UCSF UCSC)

American Recovery and Reinvestment Act (ARRA) stimulus funds

UC Santa Cruz Genomics Institute

genomeucscedu

THANK YOU

UC Santa Cruz Genomics Institute

   

Exercises 1 Load example BED and VCF tracks via url 2 Look at custom track data by pasting url into a

web browser 3 Annotate the TFBS custom track using the Data

Integrator 4 Annotate the VCF custom track using the Variant

Annotation Integrator

   

     

Exercise 1 Load example BED and VCF tracks via url

1 Go to the Custom tracks menu bull My Data -gt Custom Tracks

2 Input this url httpbitlycustomtracks (note that you must include the rdquohttprdquo part of this url or you will get an error) and click [submit]

3 Click the [Go to genome browser] button 4 Once in the main Browser jump to this position

bull chr2133034804-33037719 5 See if you can drag your 2 custom tracks to the top of

the display

Exercise 2 Exploring your BED and VCF tracks

1 Now that you have 2 custom tracks loaded take a look at the data by pasting that same url into a web browser

2 These custom tracks are actually data copied from some existing tracks see if you can find them turn them on and observe that the original tracks and custom tracks look the same in the browser bull Track 1 (BED format) Group (Regulation) Super

Track (ENC TF Binding) Track (SYDH TFBS) bull Track 2 (VCF format) Group (Variation) Track

(1000G Ph1 Vars) 3 Navigate to this position for best comparison (esp for the

VCF track) chr2133034804-33037719

   

   

Exercise 3 Annotate your BED with the Data Integrator

1 Go to the Data Integrator 2 Once there select

1 Region to annotate chr2133031597-33041570 2 Add data source group (custom tracks) track (SYDHhellip) [click

add]3 Now choose which annotations you want to add by [add]ing more

tracks to the list ndash ex 1 Find the genes that overlap with your regions group (Genes and

Gene Prediction) track (GENCODE V19) view (Genes)subtrack (Basic) [add]

2 Find the SNPs that overlap with your regions group (Variation)track (Common SNPs) [add]

Choose which fields to include in your outputOutput options -gt Choose fields [Done] -gt [get output]

   

   

   

Exercise 4 Annotate your VCF with the

Variant Annotation Integrator

1 Go to the Variant Annotation Integratorbull Tools -gt VAI

2 Select Variants bull Variants ldquoVCF Ex 1helliprdquo

3 Now choose which annotations you want to addbull To determine which gene regions your variants fall into select a

gene track (Select Genes = ldquoBasic Gene Annotation SethellipGENCODErdquo)

bull Add regulatory annotations Under ldquoSelect Regulatory Annotationsrdquo click the ldquo+rdquo button to choose which TFs to include (or select none to include all binding sites)

Bonus Material

Where to search genomeucsceducgi-binhgGateway

Where to search genomeucsceducgi-binhgGateway

Where to search Main Browser genomeucsceducgi-binhgTracks

Public Hubs

My Data Track Hubs

Where to search genomeucsceducgi-binhgHubConnect

Track search

Track search

Track search

Page 19: Visualizing ENCODE Data in the UCSC Genome Browser · Variant Annotation Integrator 1. Go to the Variant Annotation Integrator • Tools -> V.A.I. 2. Select Variants: • Variants:

AAGGACTGAACTCAGGCAGAGTCCAAGAGTCGCAG

GAAC

CTT

TCGA

TCTCCT

File Formats Scale chr2

GM12878 Ht 2 GM12878 Pk 2

2 kb hg19191876000 191877000 191878000 191879000 191880000 191881000

Basic Gene Annotation Set from GENCODE Version 19

DNaseI Hypersensitivity by Digital DNaseI from ENCODEUniversity of Washington

GM12878 DNaseI HS Raw Signal Rep 2 from ENCODEUW

K562 TFBS Uniform Peaks of Znf143_(16618-1-AP) from ENCODEStanfordAnalysisK562 Znf143 IgG-rab ChIP-seq Peaks from ENCODESYDH K562 Znf143 IgG-rab ChIP-seq Signal from ENCODESYDH

K562 polyA+ IFNa30 RNA-seq Alignments from ENCODESYDH

Exome Aggregation Consortium (ExAC) - Variants from 60706 Exomes

STAT1 STAT1 STAT1 STAT1 STAT1

AG

-

TC CT TC G

CT

GM12878 Sg 2 100 _

1 _

K562 Z143 IgR 40 _

3 _

bitlyfileformatsession

BED

wig(gle)

BAM

VCF

Scalechr2

GM12878 Ht 2GM12878 Pk 2

2 kb191876000 191877000

STAT1STAT1STAT1STAT1STAT1

AGGAAC

CTT-

TCGATCCTTCGAAGGACTGAACTCAGGCAGAGTCCAAGAGTCGCAG

CTTCTCCT

GM12878 Sg 2100 _

1 _

K562 Z143 IgR40 _

3 _

File Formats hg19

191878000 191879000 191880000 191881000Basic Gene Annotation Set from GENCODE Version 19

DNaseI Hypersensitivity by Digital DNaseI from ENCODEUniversity of Washington

GM12878 DNaseI HS Raw Signal Rep 2 from ENCODEUW

K562 TFBS Uniform Peaks of Znf143_(16618-1-AP) from ENCODEStanfordAnalysisK562 Znf143 IgG-rab ChIP-seq Peaks from ENCODESYDH K562 Znf143 IgG-rab ChIP-seq Signal from ENCODESYDH

K562 polyA+ IFNa30 RNA-seq Alignments from ENCODESYDH

Exome Aggregation Consortium (ExAC) - Variants from 60706 Exomes

BED

wig(gle)

BAM

VCF

Positional annotations (ex Regions w enriched ChIP-seq signal for TF binding Δrsquol methylation splice jxns from RNA-seq) Continuous signal data of reads (ex DNase I HS and ChIP-seq signals)

Alignments of seq reads mapped to genome (ex RNA-seq alignments)

Variation data SNPs indels Copy Number Variants Structural Variants (ex ExAC data)

Scalechr2

GM12878 Ht 2GM12878 Pk 2

2 kb191876000 191877000

STAT1STAT1STAT1STAT1STAT1

AGGAAC

CTT-

TCGATCCTTCGAAGGACTGAACTCAGGCAGAGTCCAAGAGTCGCAG

CTTCTCCT

GM12878 Sg 2100 _

1 _

K562 Z143 IgR40 _

3 _

DNaseI Hypersensitivity by Digital DNaseI from ENCODEUniversity of Washington

K562 Znf143 IgG-rab ChIP-seq Peaks from ENCODESYDH

K562 polyA+ IFNa30 RNA-seq Alignments from ENCODESYDH

191879000

Indexed File Formats 191878000

Basic Gene Annotation Set from GENCODE Version 19

GM12878 DNaseI HS Raw Signal Rep 2 from ENCODEUW

K562 TFBS Uniform Peaks of Znf143_(16618-1-AP) from ENCODEStanfordAnalysis

K562 Znf143 IgG-rab ChIP-seq Signal from ENCODESYDH

Exome Aggregation Consortium (ExAC) - Variants from 60706 Exomes

hg19191880000 191881000

BED bigBed

wig(gle) bigWig

BAM

VCF

   

  

Indexed File Formats

bull Only displayed portions of files transferred to UCSC

bull Display large files (would time out) bull File + index on your web-accessible

server (http https or ftp)bull Faster display bull More user control

File Formats

File Formats

File Formats

File Formats wwwencodeprojectorghelpfile-formats

Help File formats

Custom Tracks

Custom Tracks genomeucsceducgi-binhgCustom

Custom Tracks genomeucsceducgi-binhgCustom

track name=rdquoBED_custom_trackrdquo13 chr7 127471196 127472363 Gene1

Annotating your data BED

Tools Data Integrator

Data Integrator genomeucsceducgi-binhgIntegrator

Data Integrator

Data Integrator

httpgenomeucsceducgi-binhgIntegratorhgsid=43297266

1 of 1 62615 320 PM

Data Integrator ct_SYDHTFBS_4733chrom ct_SYDHTFBS_4733chromStart ct_SYDHTFBS_4733chromEnd ct_SYDHTFBS_4733name ct_SYDHTFBS_4733score wgEncodeGencodeBasicV19name wgEncodeGencodeBasicV19name2chr21 33031473 33032186 608 ENST000004493391 AP0002531 chr21 33031473 33032186 608 ENST000002701426 SOD1 chr21 33031473 33032186 608 ENST000003899954 SOD1 chr21 33031473 33032186 608 ENST000004709441 SOD1

       

Annotating your VCF file

1 Make a VCF custom track 2 Go to the Variant Annotation Integrator 3 Choose your track 4 Add annotations

   

Remotely Hosted Custom Tracks bull Put data file (bigBedbigWigBAMVCF etc)

in internet accessible location bull Must have 1 track info 2 bigDataUrl bull VCF example

track type=vcfTabix name=VCF_Example description=VCF Ex 1 1000 Genomes phase 1interim SNVs bigDataUrl= httphgwdevcseucscedu~paulinepresentationsvcfExamplevcfgz

  

Variant Annotation Integrator13

bull Upload pgSnp or VCF custom track13 bull Associate UCSC annotations with your

uploaded variant calls13 bull Add dbSNP info if dbSNP identifier

found13 bull Select custom track and VAI options13

3713

Variant Annotation Integrator13

Tools Variant Annotation Integrator

Variant Annotation Integrator13 genomeucsceducgi-binhgVai

   

  

Track Data Hubs 13

bull Remotely hosted13 bull Data persistence13 bull File formats 13

bigBED bigWig BAM VCF13 bull Track organization 13

groups supertracks13 bull multiWigs13 bull Assembly hubs13

Track Hubs

My Data Track Hubs

Track Hubs genomeucsceducgi-binhgHubConnect

My Data Track Hubs

My Hubs genomeucsceducgi-binhgHubConnect

My Data Track Hubs

   

Make Your Own Track Hub

You will need bull Data (compressed binary index formats

bigBed bigWig BAM VCF) bull Text files to define properties of the

track hub bull Internet-enabled webftp server bull Assembly Hubs

a twoBit sequence file

Track Hubs genomeucsceducgi-binhgHubConnect

My Data Track Hubs

myHub - directory containing track hub files

hubtxt - a short description of hub properties

genomestxt - list of genome assemblies included

hg19 - directory of data for the hg19 human assembly

Data files BAM bigBed bigWig VCF

An Example Assembly Hub

An Arabidopsis hub13 httpgenome-testcseucscedu

~paulinehubsPlantshubtxt13 13

131313

13

1313

     

Acknowledgements UCSC Genome Browser team

ndash David Haussler ndash co-PI ndash Jim Kent ndash Browser Concept BLAT Team Leader PI ndash Bob Kuhn ndash Associate Director Outreach ndash co-PI ndash Donna Karolchik Ann Zweig ndash Project Management

Engineering QA Docs Support Sys-admins

Angie Hinrichs Katrina Learned Jorge Garcia Pauline Fujita Erich Weiler Kate Rosenbloom

Hiram Clawson Luvina Guruvadoo Gary Moro Steve Heitner Galt Barber

Brian Raney Brian Lee

Max Haeussler Jonathan Caspar Matt Speir

THE GB TEAM

UC Santa Cruz Genomics Institute

Funding Sources

National Human Genome Research Institute (NHGRI)

National Cancer Institute (NCI)

National Institute for Dental and Cranio-Facial Research (NIDCR)

National Institute for Child Health and Human Development (NICHD)

QB3 (UCBerkeley UCSF UCSC)

American Recovery and Reinvestment Act (ARRA) stimulus funds

UC Santa Cruz Genomics Institute

genomeucscedu

THANK YOU

UC Santa Cruz Genomics Institute

   

Exercises 1 Load example BED and VCF tracks via url 2 Look at custom track data by pasting url into a

web browser 3 Annotate the TFBS custom track using the Data

Integrator 4 Annotate the VCF custom track using the Variant

Annotation Integrator

   

     

Exercise 1 Load example BED and VCF tracks via url

1 Go to the Custom tracks menu bull My Data -gt Custom Tracks

2 Input this url httpbitlycustomtracks (note that you must include the rdquohttprdquo part of this url or you will get an error) and click [submit]

3 Click the [Go to genome browser] button 4 Once in the main Browser jump to this position

bull chr2133034804-33037719 5 See if you can drag your 2 custom tracks to the top of

the display

Exercise 2 Exploring your BED and VCF tracks

1 Now that you have 2 custom tracks loaded take a look at the data by pasting that same url into a web browser

2 These custom tracks are actually data copied from some existing tracks see if you can find them turn them on and observe that the original tracks and custom tracks look the same in the browser bull Track 1 (BED format) Group (Regulation) Super

Track (ENC TF Binding) Track (SYDH TFBS) bull Track 2 (VCF format) Group (Variation) Track

(1000G Ph1 Vars) 3 Navigate to this position for best comparison (esp for the

VCF track) chr2133034804-33037719

   

   

Exercise 3 Annotate your BED with the Data Integrator

1 Go to the Data Integrator 2 Once there select

1 Region to annotate chr2133031597-33041570 2 Add data source group (custom tracks) track (SYDHhellip) [click

add]3 Now choose which annotations you want to add by [add]ing more

tracks to the list ndash ex 1 Find the genes that overlap with your regions group (Genes and

Gene Prediction) track (GENCODE V19) view (Genes)subtrack (Basic) [add]

2 Find the SNPs that overlap with your regions group (Variation)track (Common SNPs) [add]

Choose which fields to include in your outputOutput options -gt Choose fields [Done] -gt [get output]

   

   

   

Exercise 4 Annotate your VCF with the

Variant Annotation Integrator

1 Go to the Variant Annotation Integratorbull Tools -gt VAI

2 Select Variants bull Variants ldquoVCF Ex 1helliprdquo

3 Now choose which annotations you want to addbull To determine which gene regions your variants fall into select a

gene track (Select Genes = ldquoBasic Gene Annotation SethellipGENCODErdquo)

bull Add regulatory annotations Under ldquoSelect Regulatory Annotationsrdquo click the ldquo+rdquo button to choose which TFs to include (or select none to include all binding sites)

Bonus Material

Where to search genomeucsceducgi-binhgGateway

Where to search genomeucsceducgi-binhgGateway

Where to search Main Browser genomeucsceducgi-binhgTracks

Public Hubs

My Data Track Hubs

Where to search genomeucsceducgi-binhgHubConnect

Track search

Track search

Track search

Page 20: Visualizing ENCODE Data in the UCSC Genome Browser · Variant Annotation Integrator 1. Go to the Variant Annotation Integrator • Tools -> V.A.I. 2. Select Variants: • Variants:

Scalechr2

GM12878 Ht 2GM12878 Pk 2

2 kb191876000 191877000

STAT1STAT1STAT1STAT1STAT1

AGGAAC

CTT-

TCGATCCTTCGAAGGACTGAACTCAGGCAGAGTCCAAGAGTCGCAG

CTTCTCCT

GM12878 Sg 2100 _

1 _

K562 Z143 IgR40 _

3 _

File Formats hg19

191878000 191879000 191880000 191881000Basic Gene Annotation Set from GENCODE Version 19

DNaseI Hypersensitivity by Digital DNaseI from ENCODEUniversity of Washington

GM12878 DNaseI HS Raw Signal Rep 2 from ENCODEUW

K562 TFBS Uniform Peaks of Znf143_(16618-1-AP) from ENCODEStanfordAnalysisK562 Znf143 IgG-rab ChIP-seq Peaks from ENCODESYDH K562 Znf143 IgG-rab ChIP-seq Signal from ENCODESYDH

K562 polyA+ IFNa30 RNA-seq Alignments from ENCODESYDH

Exome Aggregation Consortium (ExAC) - Variants from 60706 Exomes

BED

wig(gle)

BAM

VCF

Positional annotations (ex Regions w enriched ChIP-seq signal for TF binding Δrsquol methylation splice jxns from RNA-seq) Continuous signal data of reads (ex DNase I HS and ChIP-seq signals)

Alignments of seq reads mapped to genome (ex RNA-seq alignments)

Variation data SNPs indels Copy Number Variants Structural Variants (ex ExAC data)

Scalechr2

GM12878 Ht 2GM12878 Pk 2

2 kb191876000 191877000

STAT1STAT1STAT1STAT1STAT1

AGGAAC

CTT-

TCGATCCTTCGAAGGACTGAACTCAGGCAGAGTCCAAGAGTCGCAG

CTTCTCCT

GM12878 Sg 2100 _

1 _

K562 Z143 IgR40 _

3 _

DNaseI Hypersensitivity by Digital DNaseI from ENCODEUniversity of Washington

K562 Znf143 IgG-rab ChIP-seq Peaks from ENCODESYDH

K562 polyA+ IFNa30 RNA-seq Alignments from ENCODESYDH

191879000

Indexed File Formats 191878000

Basic Gene Annotation Set from GENCODE Version 19

GM12878 DNaseI HS Raw Signal Rep 2 from ENCODEUW

K562 TFBS Uniform Peaks of Znf143_(16618-1-AP) from ENCODEStanfordAnalysis

K562 Znf143 IgG-rab ChIP-seq Signal from ENCODESYDH

Exome Aggregation Consortium (ExAC) - Variants from 60706 Exomes

hg19191880000 191881000

BED bigBed

wig(gle) bigWig

BAM

VCF

   

  

Indexed File Formats

bull Only displayed portions of files transferred to UCSC

bull Display large files (would time out) bull File + index on your web-accessible

server (http https or ftp)bull Faster display bull More user control

File Formats

File Formats

File Formats

File Formats wwwencodeprojectorghelpfile-formats

Help File formats

Custom Tracks

Custom Tracks genomeucsceducgi-binhgCustom

Custom Tracks genomeucsceducgi-binhgCustom

track name=rdquoBED_custom_trackrdquo13 chr7 127471196 127472363 Gene1

Annotating your data BED

Tools Data Integrator

Data Integrator genomeucsceducgi-binhgIntegrator

Data Integrator

Data Integrator

httpgenomeucsceducgi-binhgIntegratorhgsid=43297266

1 of 1 62615 320 PM

Data Integrator ct_SYDHTFBS_4733chrom ct_SYDHTFBS_4733chromStart ct_SYDHTFBS_4733chromEnd ct_SYDHTFBS_4733name ct_SYDHTFBS_4733score wgEncodeGencodeBasicV19name wgEncodeGencodeBasicV19name2chr21 33031473 33032186 608 ENST000004493391 AP0002531 chr21 33031473 33032186 608 ENST000002701426 SOD1 chr21 33031473 33032186 608 ENST000003899954 SOD1 chr21 33031473 33032186 608 ENST000004709441 SOD1

       

Annotating your VCF file

1 Make a VCF custom track 2 Go to the Variant Annotation Integrator 3 Choose your track 4 Add annotations

   

Remotely Hosted Custom Tracks bull Put data file (bigBedbigWigBAMVCF etc)

in internet accessible location bull Must have 1 track info 2 bigDataUrl bull VCF example

track type=vcfTabix name=VCF_Example description=VCF Ex 1 1000 Genomes phase 1interim SNVs bigDataUrl= httphgwdevcseucscedu~paulinepresentationsvcfExamplevcfgz

  

Variant Annotation Integrator13

bull Upload pgSnp or VCF custom track13 bull Associate UCSC annotations with your

uploaded variant calls13 bull Add dbSNP info if dbSNP identifier

found13 bull Select custom track and VAI options13

3713

Variant Annotation Integrator13

Tools Variant Annotation Integrator

Variant Annotation Integrator13 genomeucsceducgi-binhgVai

   

  

Track Data Hubs 13

bull Remotely hosted13 bull Data persistence13 bull File formats 13

bigBED bigWig BAM VCF13 bull Track organization 13

groups supertracks13 bull multiWigs13 bull Assembly hubs13

Track Hubs

My Data Track Hubs

Track Hubs genomeucsceducgi-binhgHubConnect

My Data Track Hubs

My Hubs genomeucsceducgi-binhgHubConnect

My Data Track Hubs

   

Make Your Own Track Hub

You will need bull Data (compressed binary index formats

bigBed bigWig BAM VCF) bull Text files to define properties of the

track hub bull Internet-enabled webftp server bull Assembly Hubs

a twoBit sequence file

Track Hubs genomeucsceducgi-binhgHubConnect

My Data Track Hubs

myHub - directory containing track hub files

hubtxt - a short description of hub properties

genomestxt - list of genome assemblies included

hg19 - directory of data for the hg19 human assembly

Data files BAM bigBed bigWig VCF

An Example Assembly Hub

An Arabidopsis hub13 httpgenome-testcseucscedu

~paulinehubsPlantshubtxt13 13

131313

13

1313

     

Acknowledgements UCSC Genome Browser team

ndash David Haussler ndash co-PI ndash Jim Kent ndash Browser Concept BLAT Team Leader PI ndash Bob Kuhn ndash Associate Director Outreach ndash co-PI ndash Donna Karolchik Ann Zweig ndash Project Management

Engineering QA Docs Support Sys-admins

Angie Hinrichs Katrina Learned Jorge Garcia Pauline Fujita Erich Weiler Kate Rosenbloom

Hiram Clawson Luvina Guruvadoo Gary Moro Steve Heitner Galt Barber

Brian Raney Brian Lee

Max Haeussler Jonathan Caspar Matt Speir

THE GB TEAM

UC Santa Cruz Genomics Institute

Funding Sources

National Human Genome Research Institute (NHGRI)

National Cancer Institute (NCI)

National Institute for Dental and Cranio-Facial Research (NIDCR)

National Institute for Child Health and Human Development (NICHD)

QB3 (UCBerkeley UCSF UCSC)

American Recovery and Reinvestment Act (ARRA) stimulus funds

UC Santa Cruz Genomics Institute

genomeucscedu

THANK YOU

UC Santa Cruz Genomics Institute

   

Exercises 1 Load example BED and VCF tracks via url 2 Look at custom track data by pasting url into a

web browser 3 Annotate the TFBS custom track using the Data

Integrator 4 Annotate the VCF custom track using the Variant

Annotation Integrator

   

     

Exercise 1 Load example BED and VCF tracks via url

1 Go to the Custom tracks menu bull My Data -gt Custom Tracks

2 Input this url httpbitlycustomtracks (note that you must include the rdquohttprdquo part of this url or you will get an error) and click [submit]

3 Click the [Go to genome browser] button 4 Once in the main Browser jump to this position

bull chr2133034804-33037719 5 See if you can drag your 2 custom tracks to the top of

the display

Exercise 2 Exploring your BED and VCF tracks

1 Now that you have 2 custom tracks loaded take a look at the data by pasting that same url into a web browser

2 These custom tracks are actually data copied from some existing tracks see if you can find them turn them on and observe that the original tracks and custom tracks look the same in the browser bull Track 1 (BED format) Group (Regulation) Super

Track (ENC TF Binding) Track (SYDH TFBS) bull Track 2 (VCF format) Group (Variation) Track

(1000G Ph1 Vars) 3 Navigate to this position for best comparison (esp for the

VCF track) chr2133034804-33037719

   

   

Exercise 3 Annotate your BED with the Data Integrator

1 Go to the Data Integrator 2 Once there select

1 Region to annotate chr2133031597-33041570 2 Add data source group (custom tracks) track (SYDHhellip) [click

add]3 Now choose which annotations you want to add by [add]ing more

tracks to the list ndash ex 1 Find the genes that overlap with your regions group (Genes and

Gene Prediction) track (GENCODE V19) view (Genes)subtrack (Basic) [add]

2 Find the SNPs that overlap with your regions group (Variation)track (Common SNPs) [add]

Choose which fields to include in your outputOutput options -gt Choose fields [Done] -gt [get output]

   

   

   

Exercise 4 Annotate your VCF with the

Variant Annotation Integrator

1 Go to the Variant Annotation Integratorbull Tools -gt VAI

2 Select Variants bull Variants ldquoVCF Ex 1helliprdquo

3 Now choose which annotations you want to addbull To determine which gene regions your variants fall into select a

gene track (Select Genes = ldquoBasic Gene Annotation SethellipGENCODErdquo)

bull Add regulatory annotations Under ldquoSelect Regulatory Annotationsrdquo click the ldquo+rdquo button to choose which TFs to include (or select none to include all binding sites)

Bonus Material

Where to search genomeucsceducgi-binhgGateway

Where to search genomeucsceducgi-binhgGateway

Where to search Main Browser genomeucsceducgi-binhgTracks

Public Hubs

My Data Track Hubs

Where to search genomeucsceducgi-binhgHubConnect

Track search

Track search

Track search

Page 21: Visualizing ENCODE Data in the UCSC Genome Browser · Variant Annotation Integrator 1. Go to the Variant Annotation Integrator • Tools -> V.A.I. 2. Select Variants: • Variants:

Scalechr2

GM12878 Ht 2GM12878 Pk 2

2 kb191876000 191877000

STAT1STAT1STAT1STAT1STAT1

AGGAAC

CTT-

TCGATCCTTCGAAGGACTGAACTCAGGCAGAGTCCAAGAGTCGCAG

CTTCTCCT

GM12878 Sg 2100 _

1 _

K562 Z143 IgR40 _

3 _

DNaseI Hypersensitivity by Digital DNaseI from ENCODEUniversity of Washington

K562 Znf143 IgG-rab ChIP-seq Peaks from ENCODESYDH

K562 polyA+ IFNa30 RNA-seq Alignments from ENCODESYDH

191879000

Indexed File Formats 191878000

Basic Gene Annotation Set from GENCODE Version 19

GM12878 DNaseI HS Raw Signal Rep 2 from ENCODEUW

K562 TFBS Uniform Peaks of Znf143_(16618-1-AP) from ENCODEStanfordAnalysis

K562 Znf143 IgG-rab ChIP-seq Signal from ENCODESYDH

Exome Aggregation Consortium (ExAC) - Variants from 60706 Exomes

hg19191880000 191881000

BED bigBed

wig(gle) bigWig

BAM

VCF

   

  

Indexed File Formats

bull Only displayed portions of files transferred to UCSC

bull Display large files (would time out) bull File + index on your web-accessible

server (http https or ftp)bull Faster display bull More user control

File Formats

File Formats

File Formats

File Formats wwwencodeprojectorghelpfile-formats

Help File formats

Custom Tracks

Custom Tracks genomeucsceducgi-binhgCustom

Custom Tracks genomeucsceducgi-binhgCustom

track name=rdquoBED_custom_trackrdquo13 chr7 127471196 127472363 Gene1

Annotating your data BED

Tools Data Integrator

Data Integrator genomeucsceducgi-binhgIntegrator

Data Integrator

Data Integrator

httpgenomeucsceducgi-binhgIntegratorhgsid=43297266

1 of 1 62615 320 PM

Data Integrator ct_SYDHTFBS_4733chrom ct_SYDHTFBS_4733chromStart ct_SYDHTFBS_4733chromEnd ct_SYDHTFBS_4733name ct_SYDHTFBS_4733score wgEncodeGencodeBasicV19name wgEncodeGencodeBasicV19name2chr21 33031473 33032186 608 ENST000004493391 AP0002531 chr21 33031473 33032186 608 ENST000002701426 SOD1 chr21 33031473 33032186 608 ENST000003899954 SOD1 chr21 33031473 33032186 608 ENST000004709441 SOD1

       

Annotating your VCF file

1 Make a VCF custom track 2 Go to the Variant Annotation Integrator 3 Choose your track 4 Add annotations

   

Remotely Hosted Custom Tracks bull Put data file (bigBedbigWigBAMVCF etc)

in internet accessible location bull Must have 1 track info 2 bigDataUrl bull VCF example

track type=vcfTabix name=VCF_Example description=VCF Ex 1 1000 Genomes phase 1interim SNVs bigDataUrl= httphgwdevcseucscedu~paulinepresentationsvcfExamplevcfgz

  

Variant Annotation Integrator13

bull Upload pgSnp or VCF custom track13 bull Associate UCSC annotations with your

uploaded variant calls13 bull Add dbSNP info if dbSNP identifier

found13 bull Select custom track and VAI options13

3713

Variant Annotation Integrator13

Tools Variant Annotation Integrator

Variant Annotation Integrator13 genomeucsceducgi-binhgVai

   

  

Track Data Hubs 13

bull Remotely hosted13 bull Data persistence13 bull File formats 13

bigBED bigWig BAM VCF13 bull Track organization 13

groups supertracks13 bull multiWigs13 bull Assembly hubs13

Track Hubs

My Data Track Hubs

Track Hubs genomeucsceducgi-binhgHubConnect

My Data Track Hubs

My Hubs genomeucsceducgi-binhgHubConnect

My Data Track Hubs

   

Make Your Own Track Hub

You will need bull Data (compressed binary index formats

bigBed bigWig BAM VCF) bull Text files to define properties of the

track hub bull Internet-enabled webftp server bull Assembly Hubs

a twoBit sequence file

Track Hubs genomeucsceducgi-binhgHubConnect

My Data Track Hubs

myHub - directory containing track hub files

hubtxt - a short description of hub properties

genomestxt - list of genome assemblies included

hg19 - directory of data for the hg19 human assembly

Data files BAM bigBed bigWig VCF

An Example Assembly Hub

An Arabidopsis hub13 httpgenome-testcseucscedu

~paulinehubsPlantshubtxt13 13

131313

13

1313

     

Acknowledgements UCSC Genome Browser team

ndash David Haussler ndash co-PI ndash Jim Kent ndash Browser Concept BLAT Team Leader PI ndash Bob Kuhn ndash Associate Director Outreach ndash co-PI ndash Donna Karolchik Ann Zweig ndash Project Management

Engineering QA Docs Support Sys-admins

Angie Hinrichs Katrina Learned Jorge Garcia Pauline Fujita Erich Weiler Kate Rosenbloom

Hiram Clawson Luvina Guruvadoo Gary Moro Steve Heitner Galt Barber

Brian Raney Brian Lee

Max Haeussler Jonathan Caspar Matt Speir

THE GB TEAM

UC Santa Cruz Genomics Institute

Funding Sources

National Human Genome Research Institute (NHGRI)

National Cancer Institute (NCI)

National Institute for Dental and Cranio-Facial Research (NIDCR)

National Institute for Child Health and Human Development (NICHD)

QB3 (UCBerkeley UCSF UCSC)

American Recovery and Reinvestment Act (ARRA) stimulus funds

UC Santa Cruz Genomics Institute

genomeucscedu

THANK YOU

UC Santa Cruz Genomics Institute

   

Exercises 1 Load example BED and VCF tracks via url 2 Look at custom track data by pasting url into a

web browser 3 Annotate the TFBS custom track using the Data

Integrator 4 Annotate the VCF custom track using the Variant

Annotation Integrator

   

     

Exercise 1 Load example BED and VCF tracks via url

1 Go to the Custom tracks menu bull My Data -gt Custom Tracks

2 Input this url httpbitlycustomtracks (note that you must include the rdquohttprdquo part of this url or you will get an error) and click [submit]

3 Click the [Go to genome browser] button 4 Once in the main Browser jump to this position

bull chr2133034804-33037719 5 See if you can drag your 2 custom tracks to the top of

the display

Exercise 2 Exploring your BED and VCF tracks

1 Now that you have 2 custom tracks loaded take a look at the data by pasting that same url into a web browser

2 These custom tracks are actually data copied from some existing tracks see if you can find them turn them on and observe that the original tracks and custom tracks look the same in the browser bull Track 1 (BED format) Group (Regulation) Super

Track (ENC TF Binding) Track (SYDH TFBS) bull Track 2 (VCF format) Group (Variation) Track

(1000G Ph1 Vars) 3 Navigate to this position for best comparison (esp for the

VCF track) chr2133034804-33037719

   

   

Exercise 3 Annotate your BED with the Data Integrator

1 Go to the Data Integrator 2 Once there select

1 Region to annotate chr2133031597-33041570 2 Add data source group (custom tracks) track (SYDHhellip) [click

add]3 Now choose which annotations you want to add by [add]ing more

tracks to the list ndash ex 1 Find the genes that overlap with your regions group (Genes and

Gene Prediction) track (GENCODE V19) view (Genes)subtrack (Basic) [add]

2 Find the SNPs that overlap with your regions group (Variation)track (Common SNPs) [add]

Choose which fields to include in your outputOutput options -gt Choose fields [Done] -gt [get output]

   

   

   

Exercise 4 Annotate your VCF with the

Variant Annotation Integrator

1 Go to the Variant Annotation Integratorbull Tools -gt VAI

2 Select Variants bull Variants ldquoVCF Ex 1helliprdquo

3 Now choose which annotations you want to addbull To determine which gene regions your variants fall into select a

gene track (Select Genes = ldquoBasic Gene Annotation SethellipGENCODErdquo)

bull Add regulatory annotations Under ldquoSelect Regulatory Annotationsrdquo click the ldquo+rdquo button to choose which TFs to include (or select none to include all binding sites)

Bonus Material

Where to search genomeucsceducgi-binhgGateway

Where to search genomeucsceducgi-binhgGateway

Where to search Main Browser genomeucsceducgi-binhgTracks

Public Hubs

My Data Track Hubs

Where to search genomeucsceducgi-binhgHubConnect

Track search

Track search

Track search

Page 22: Visualizing ENCODE Data in the UCSC Genome Browser · Variant Annotation Integrator 1. Go to the Variant Annotation Integrator • Tools -> V.A.I. 2. Select Variants: • Variants:

   

  

Indexed File Formats

bull Only displayed portions of files transferred to UCSC

bull Display large files (would time out) bull File + index on your web-accessible

server (http https or ftp)bull Faster display bull More user control

File Formats

File Formats

File Formats

File Formats wwwencodeprojectorghelpfile-formats

Help File formats

Custom Tracks

Custom Tracks genomeucsceducgi-binhgCustom

Custom Tracks genomeucsceducgi-binhgCustom

track name=rdquoBED_custom_trackrdquo13 chr7 127471196 127472363 Gene1

Annotating your data BED

Tools Data Integrator

Data Integrator genomeucsceducgi-binhgIntegrator

Data Integrator

Data Integrator

httpgenomeucsceducgi-binhgIntegratorhgsid=43297266

1 of 1 62615 320 PM

Data Integrator ct_SYDHTFBS_4733chrom ct_SYDHTFBS_4733chromStart ct_SYDHTFBS_4733chromEnd ct_SYDHTFBS_4733name ct_SYDHTFBS_4733score wgEncodeGencodeBasicV19name wgEncodeGencodeBasicV19name2chr21 33031473 33032186 608 ENST000004493391 AP0002531 chr21 33031473 33032186 608 ENST000002701426 SOD1 chr21 33031473 33032186 608 ENST000003899954 SOD1 chr21 33031473 33032186 608 ENST000004709441 SOD1

       

Annotating your VCF file

1 Make a VCF custom track 2 Go to the Variant Annotation Integrator 3 Choose your track 4 Add annotations

   

Remotely Hosted Custom Tracks bull Put data file (bigBedbigWigBAMVCF etc)

in internet accessible location bull Must have 1 track info 2 bigDataUrl bull VCF example

track type=vcfTabix name=VCF_Example description=VCF Ex 1 1000 Genomes phase 1interim SNVs bigDataUrl= httphgwdevcseucscedu~paulinepresentationsvcfExamplevcfgz

  

Variant Annotation Integrator13

bull Upload pgSnp or VCF custom track13 bull Associate UCSC annotations with your

uploaded variant calls13 bull Add dbSNP info if dbSNP identifier

found13 bull Select custom track and VAI options13

3713

Variant Annotation Integrator13

Tools Variant Annotation Integrator

Variant Annotation Integrator13 genomeucsceducgi-binhgVai

   

  

Track Data Hubs 13

bull Remotely hosted13 bull Data persistence13 bull File formats 13

bigBED bigWig BAM VCF13 bull Track organization 13

groups supertracks13 bull multiWigs13 bull Assembly hubs13

Track Hubs

My Data Track Hubs

Track Hubs genomeucsceducgi-binhgHubConnect

My Data Track Hubs

My Hubs genomeucsceducgi-binhgHubConnect

My Data Track Hubs

   

Make Your Own Track Hub

You will need bull Data (compressed binary index formats

bigBed bigWig BAM VCF) bull Text files to define properties of the

track hub bull Internet-enabled webftp server bull Assembly Hubs

a twoBit sequence file

Track Hubs genomeucsceducgi-binhgHubConnect

My Data Track Hubs

myHub - directory containing track hub files

hubtxt - a short description of hub properties

genomestxt - list of genome assemblies included

hg19 - directory of data for the hg19 human assembly

Data files BAM bigBed bigWig VCF

An Example Assembly Hub

An Arabidopsis hub13 httpgenome-testcseucscedu

~paulinehubsPlantshubtxt13 13

131313

13

1313

     

Acknowledgements UCSC Genome Browser team

ndash David Haussler ndash co-PI ndash Jim Kent ndash Browser Concept BLAT Team Leader PI ndash Bob Kuhn ndash Associate Director Outreach ndash co-PI ndash Donna Karolchik Ann Zweig ndash Project Management

Engineering QA Docs Support Sys-admins

Angie Hinrichs Katrina Learned Jorge Garcia Pauline Fujita Erich Weiler Kate Rosenbloom

Hiram Clawson Luvina Guruvadoo Gary Moro Steve Heitner Galt Barber

Brian Raney Brian Lee

Max Haeussler Jonathan Caspar Matt Speir

THE GB TEAM

UC Santa Cruz Genomics Institute

Funding Sources

National Human Genome Research Institute (NHGRI)

National Cancer Institute (NCI)

National Institute for Dental and Cranio-Facial Research (NIDCR)

National Institute for Child Health and Human Development (NICHD)

QB3 (UCBerkeley UCSF UCSC)

American Recovery and Reinvestment Act (ARRA) stimulus funds

UC Santa Cruz Genomics Institute

genomeucscedu

THANK YOU

UC Santa Cruz Genomics Institute

   

Exercises 1 Load example BED and VCF tracks via url 2 Look at custom track data by pasting url into a

web browser 3 Annotate the TFBS custom track using the Data

Integrator 4 Annotate the VCF custom track using the Variant

Annotation Integrator

   

     

Exercise 1 Load example BED and VCF tracks via url

1 Go to the Custom tracks menu bull My Data -gt Custom Tracks

2 Input this url httpbitlycustomtracks (note that you must include the rdquohttprdquo part of this url or you will get an error) and click [submit]

3 Click the [Go to genome browser] button 4 Once in the main Browser jump to this position

bull chr2133034804-33037719 5 See if you can drag your 2 custom tracks to the top of

the display

Exercise 2 Exploring your BED and VCF tracks

1 Now that you have 2 custom tracks loaded take a look at the data by pasting that same url into a web browser

2 These custom tracks are actually data copied from some existing tracks see if you can find them turn them on and observe that the original tracks and custom tracks look the same in the browser bull Track 1 (BED format) Group (Regulation) Super

Track (ENC TF Binding) Track (SYDH TFBS) bull Track 2 (VCF format) Group (Variation) Track

(1000G Ph1 Vars) 3 Navigate to this position for best comparison (esp for the

VCF track) chr2133034804-33037719

   

   

Exercise 3 Annotate your BED with the Data Integrator

1 Go to the Data Integrator 2 Once there select

1 Region to annotate chr2133031597-33041570 2 Add data source group (custom tracks) track (SYDHhellip) [click

add]3 Now choose which annotations you want to add by [add]ing more

tracks to the list ndash ex 1 Find the genes that overlap with your regions group (Genes and

Gene Prediction) track (GENCODE V19) view (Genes)subtrack (Basic) [add]

2 Find the SNPs that overlap with your regions group (Variation)track (Common SNPs) [add]

Choose which fields to include in your outputOutput options -gt Choose fields [Done] -gt [get output]

   

   

   

Exercise 4 Annotate your VCF with the

Variant Annotation Integrator

1 Go to the Variant Annotation Integratorbull Tools -gt VAI

2 Select Variants bull Variants ldquoVCF Ex 1helliprdquo

3 Now choose which annotations you want to addbull To determine which gene regions your variants fall into select a

gene track (Select Genes = ldquoBasic Gene Annotation SethellipGENCODErdquo)

bull Add regulatory annotations Under ldquoSelect Regulatory Annotationsrdquo click the ldquo+rdquo button to choose which TFs to include (or select none to include all binding sites)

Bonus Material

Where to search genomeucsceducgi-binhgGateway

Where to search genomeucsceducgi-binhgGateway

Where to search Main Browser genomeucsceducgi-binhgTracks

Public Hubs

My Data Track Hubs

Where to search genomeucsceducgi-binhgHubConnect

Track search

Track search

Track search

Page 23: Visualizing ENCODE Data in the UCSC Genome Browser · Variant Annotation Integrator 1. Go to the Variant Annotation Integrator • Tools -> V.A.I. 2. Select Variants: • Variants:

File Formats

File Formats

File Formats

File Formats wwwencodeprojectorghelpfile-formats

Help File formats

Custom Tracks

Custom Tracks genomeucsceducgi-binhgCustom

Custom Tracks genomeucsceducgi-binhgCustom

track name=rdquoBED_custom_trackrdquo13 chr7 127471196 127472363 Gene1

Annotating your data BED

Tools Data Integrator

Data Integrator genomeucsceducgi-binhgIntegrator

Data Integrator

Data Integrator

httpgenomeucsceducgi-binhgIntegratorhgsid=43297266

1 of 1 62615 320 PM

Data Integrator ct_SYDHTFBS_4733chrom ct_SYDHTFBS_4733chromStart ct_SYDHTFBS_4733chromEnd ct_SYDHTFBS_4733name ct_SYDHTFBS_4733score wgEncodeGencodeBasicV19name wgEncodeGencodeBasicV19name2chr21 33031473 33032186 608 ENST000004493391 AP0002531 chr21 33031473 33032186 608 ENST000002701426 SOD1 chr21 33031473 33032186 608 ENST000003899954 SOD1 chr21 33031473 33032186 608 ENST000004709441 SOD1

       

Annotating your VCF file

1 Make a VCF custom track 2 Go to the Variant Annotation Integrator 3 Choose your track 4 Add annotations

   

Remotely Hosted Custom Tracks bull Put data file (bigBedbigWigBAMVCF etc)

in internet accessible location bull Must have 1 track info 2 bigDataUrl bull VCF example

track type=vcfTabix name=VCF_Example description=VCF Ex 1 1000 Genomes phase 1interim SNVs bigDataUrl= httphgwdevcseucscedu~paulinepresentationsvcfExamplevcfgz

  

Variant Annotation Integrator13

bull Upload pgSnp or VCF custom track13 bull Associate UCSC annotations with your

uploaded variant calls13 bull Add dbSNP info if dbSNP identifier

found13 bull Select custom track and VAI options13

3713

Variant Annotation Integrator13

Tools Variant Annotation Integrator

Variant Annotation Integrator13 genomeucsceducgi-binhgVai

   

  

Track Data Hubs 13

bull Remotely hosted13 bull Data persistence13 bull File formats 13

bigBED bigWig BAM VCF13 bull Track organization 13

groups supertracks13 bull multiWigs13 bull Assembly hubs13

Track Hubs

My Data Track Hubs

Track Hubs genomeucsceducgi-binhgHubConnect

My Data Track Hubs

My Hubs genomeucsceducgi-binhgHubConnect

My Data Track Hubs

   

Make Your Own Track Hub

You will need bull Data (compressed binary index formats

bigBed bigWig BAM VCF) bull Text files to define properties of the

track hub bull Internet-enabled webftp server bull Assembly Hubs

a twoBit sequence file

Track Hubs genomeucsceducgi-binhgHubConnect

My Data Track Hubs

myHub - directory containing track hub files

hubtxt - a short description of hub properties

genomestxt - list of genome assemblies included

hg19 - directory of data for the hg19 human assembly

Data files BAM bigBed bigWig VCF

An Example Assembly Hub

An Arabidopsis hub13 httpgenome-testcseucscedu

~paulinehubsPlantshubtxt13 13

131313

13

1313

     

Acknowledgements UCSC Genome Browser team

ndash David Haussler ndash co-PI ndash Jim Kent ndash Browser Concept BLAT Team Leader PI ndash Bob Kuhn ndash Associate Director Outreach ndash co-PI ndash Donna Karolchik Ann Zweig ndash Project Management

Engineering QA Docs Support Sys-admins

Angie Hinrichs Katrina Learned Jorge Garcia Pauline Fujita Erich Weiler Kate Rosenbloom

Hiram Clawson Luvina Guruvadoo Gary Moro Steve Heitner Galt Barber

Brian Raney Brian Lee

Max Haeussler Jonathan Caspar Matt Speir

THE GB TEAM

UC Santa Cruz Genomics Institute

Funding Sources

National Human Genome Research Institute (NHGRI)

National Cancer Institute (NCI)

National Institute for Dental and Cranio-Facial Research (NIDCR)

National Institute for Child Health and Human Development (NICHD)

QB3 (UCBerkeley UCSF UCSC)

American Recovery and Reinvestment Act (ARRA) stimulus funds

UC Santa Cruz Genomics Institute

genomeucscedu

THANK YOU

UC Santa Cruz Genomics Institute

   

Exercises 1 Load example BED and VCF tracks via url 2 Look at custom track data by pasting url into a

web browser 3 Annotate the TFBS custom track using the Data

Integrator 4 Annotate the VCF custom track using the Variant

Annotation Integrator

   

     

Exercise 1 Load example BED and VCF tracks via url

1 Go to the Custom tracks menu bull My Data -gt Custom Tracks

2 Input this url httpbitlycustomtracks (note that you must include the rdquohttprdquo part of this url or you will get an error) and click [submit]

3 Click the [Go to genome browser] button 4 Once in the main Browser jump to this position

bull chr2133034804-33037719 5 See if you can drag your 2 custom tracks to the top of

the display

Exercise 2 Exploring your BED and VCF tracks

1 Now that you have 2 custom tracks loaded take a look at the data by pasting that same url into a web browser

2 These custom tracks are actually data copied from some existing tracks see if you can find them turn them on and observe that the original tracks and custom tracks look the same in the browser bull Track 1 (BED format) Group (Regulation) Super

Track (ENC TF Binding) Track (SYDH TFBS) bull Track 2 (VCF format) Group (Variation) Track

(1000G Ph1 Vars) 3 Navigate to this position for best comparison (esp for the

VCF track) chr2133034804-33037719

   

   

Exercise 3 Annotate your BED with the Data Integrator

1 Go to the Data Integrator 2 Once there select

1 Region to annotate chr2133031597-33041570 2 Add data source group (custom tracks) track (SYDHhellip) [click

add]3 Now choose which annotations you want to add by [add]ing more

tracks to the list ndash ex 1 Find the genes that overlap with your regions group (Genes and

Gene Prediction) track (GENCODE V19) view (Genes)subtrack (Basic) [add]

2 Find the SNPs that overlap with your regions group (Variation)track (Common SNPs) [add]

Choose which fields to include in your outputOutput options -gt Choose fields [Done] -gt [get output]

   

   

   

Exercise 4 Annotate your VCF with the

Variant Annotation Integrator

1 Go to the Variant Annotation Integratorbull Tools -gt VAI

2 Select Variants bull Variants ldquoVCF Ex 1helliprdquo

3 Now choose which annotations you want to addbull To determine which gene regions your variants fall into select a

gene track (Select Genes = ldquoBasic Gene Annotation SethellipGENCODErdquo)

bull Add regulatory annotations Under ldquoSelect Regulatory Annotationsrdquo click the ldquo+rdquo button to choose which TFs to include (or select none to include all binding sites)

Bonus Material

Where to search genomeucsceducgi-binhgGateway

Where to search genomeucsceducgi-binhgGateway

Where to search Main Browser genomeucsceducgi-binhgTracks

Public Hubs

My Data Track Hubs

Where to search genomeucsceducgi-binhgHubConnect

Track search

Track search

Track search

Page 24: Visualizing ENCODE Data in the UCSC Genome Browser · Variant Annotation Integrator 1. Go to the Variant Annotation Integrator • Tools -> V.A.I. 2. Select Variants: • Variants:

File Formats

File Formats

File Formats wwwencodeprojectorghelpfile-formats

Help File formats

Custom Tracks

Custom Tracks genomeucsceducgi-binhgCustom

Custom Tracks genomeucsceducgi-binhgCustom

track name=rdquoBED_custom_trackrdquo13 chr7 127471196 127472363 Gene1

Annotating your data BED

Tools Data Integrator

Data Integrator genomeucsceducgi-binhgIntegrator

Data Integrator

Data Integrator

httpgenomeucsceducgi-binhgIntegratorhgsid=43297266

1 of 1 62615 320 PM

Data Integrator ct_SYDHTFBS_4733chrom ct_SYDHTFBS_4733chromStart ct_SYDHTFBS_4733chromEnd ct_SYDHTFBS_4733name ct_SYDHTFBS_4733score wgEncodeGencodeBasicV19name wgEncodeGencodeBasicV19name2chr21 33031473 33032186 608 ENST000004493391 AP0002531 chr21 33031473 33032186 608 ENST000002701426 SOD1 chr21 33031473 33032186 608 ENST000003899954 SOD1 chr21 33031473 33032186 608 ENST000004709441 SOD1

       

Annotating your VCF file

1 Make a VCF custom track 2 Go to the Variant Annotation Integrator 3 Choose your track 4 Add annotations

   

Remotely Hosted Custom Tracks bull Put data file (bigBedbigWigBAMVCF etc)

in internet accessible location bull Must have 1 track info 2 bigDataUrl bull VCF example

track type=vcfTabix name=VCF_Example description=VCF Ex 1 1000 Genomes phase 1interim SNVs bigDataUrl= httphgwdevcseucscedu~paulinepresentationsvcfExamplevcfgz

  

Variant Annotation Integrator13

bull Upload pgSnp or VCF custom track13 bull Associate UCSC annotations with your

uploaded variant calls13 bull Add dbSNP info if dbSNP identifier

found13 bull Select custom track and VAI options13

3713

Variant Annotation Integrator13

Tools Variant Annotation Integrator

Variant Annotation Integrator13 genomeucsceducgi-binhgVai

   

  

Track Data Hubs 13

bull Remotely hosted13 bull Data persistence13 bull File formats 13

bigBED bigWig BAM VCF13 bull Track organization 13

groups supertracks13 bull multiWigs13 bull Assembly hubs13

Track Hubs

My Data Track Hubs

Track Hubs genomeucsceducgi-binhgHubConnect

My Data Track Hubs

My Hubs genomeucsceducgi-binhgHubConnect

My Data Track Hubs

   

Make Your Own Track Hub

You will need bull Data (compressed binary index formats

bigBed bigWig BAM VCF) bull Text files to define properties of the

track hub bull Internet-enabled webftp server bull Assembly Hubs

a twoBit sequence file

Track Hubs genomeucsceducgi-binhgHubConnect

My Data Track Hubs

myHub - directory containing track hub files

hubtxt - a short description of hub properties

genomestxt - list of genome assemblies included

hg19 - directory of data for the hg19 human assembly

Data files BAM bigBed bigWig VCF

An Example Assembly Hub

An Arabidopsis hub13 httpgenome-testcseucscedu

~paulinehubsPlantshubtxt13 13

131313

13

1313

     

Acknowledgements UCSC Genome Browser team

ndash David Haussler ndash co-PI ndash Jim Kent ndash Browser Concept BLAT Team Leader PI ndash Bob Kuhn ndash Associate Director Outreach ndash co-PI ndash Donna Karolchik Ann Zweig ndash Project Management

Engineering QA Docs Support Sys-admins

Angie Hinrichs Katrina Learned Jorge Garcia Pauline Fujita Erich Weiler Kate Rosenbloom

Hiram Clawson Luvina Guruvadoo Gary Moro Steve Heitner Galt Barber

Brian Raney Brian Lee

Max Haeussler Jonathan Caspar Matt Speir

THE GB TEAM

UC Santa Cruz Genomics Institute

Funding Sources

National Human Genome Research Institute (NHGRI)

National Cancer Institute (NCI)

National Institute for Dental and Cranio-Facial Research (NIDCR)

National Institute for Child Health and Human Development (NICHD)

QB3 (UCBerkeley UCSF UCSC)

American Recovery and Reinvestment Act (ARRA) stimulus funds

UC Santa Cruz Genomics Institute

genomeucscedu

THANK YOU

UC Santa Cruz Genomics Institute

   

Exercises 1 Load example BED and VCF tracks via url 2 Look at custom track data by pasting url into a

web browser 3 Annotate the TFBS custom track using the Data

Integrator 4 Annotate the VCF custom track using the Variant

Annotation Integrator

   

     

Exercise 1 Load example BED and VCF tracks via url

1 Go to the Custom tracks menu bull My Data -gt Custom Tracks

2 Input this url httpbitlycustomtracks (note that you must include the rdquohttprdquo part of this url or you will get an error) and click [submit]

3 Click the [Go to genome browser] button 4 Once in the main Browser jump to this position

bull chr2133034804-33037719 5 See if you can drag your 2 custom tracks to the top of

the display

Exercise 2 Exploring your BED and VCF tracks

1 Now that you have 2 custom tracks loaded take a look at the data by pasting that same url into a web browser

2 These custom tracks are actually data copied from some existing tracks see if you can find them turn them on and observe that the original tracks and custom tracks look the same in the browser bull Track 1 (BED format) Group (Regulation) Super

Track (ENC TF Binding) Track (SYDH TFBS) bull Track 2 (VCF format) Group (Variation) Track

(1000G Ph1 Vars) 3 Navigate to this position for best comparison (esp for the

VCF track) chr2133034804-33037719

   

   

Exercise 3 Annotate your BED with the Data Integrator

1 Go to the Data Integrator 2 Once there select

1 Region to annotate chr2133031597-33041570 2 Add data source group (custom tracks) track (SYDHhellip) [click

add]3 Now choose which annotations you want to add by [add]ing more

tracks to the list ndash ex 1 Find the genes that overlap with your regions group (Genes and

Gene Prediction) track (GENCODE V19) view (Genes)subtrack (Basic) [add]

2 Find the SNPs that overlap with your regions group (Variation)track (Common SNPs) [add]

Choose which fields to include in your outputOutput options -gt Choose fields [Done] -gt [get output]

   

   

   

Exercise 4 Annotate your VCF with the

Variant Annotation Integrator

1 Go to the Variant Annotation Integratorbull Tools -gt VAI

2 Select Variants bull Variants ldquoVCF Ex 1helliprdquo

3 Now choose which annotations you want to addbull To determine which gene regions your variants fall into select a

gene track (Select Genes = ldquoBasic Gene Annotation SethellipGENCODErdquo)

bull Add regulatory annotations Under ldquoSelect Regulatory Annotationsrdquo click the ldquo+rdquo button to choose which TFs to include (or select none to include all binding sites)

Bonus Material

Where to search genomeucsceducgi-binhgGateway

Where to search genomeucsceducgi-binhgGateway

Where to search Main Browser genomeucsceducgi-binhgTracks

Public Hubs

My Data Track Hubs

Where to search genomeucsceducgi-binhgHubConnect

Track search

Track search

Track search

Page 25: Visualizing ENCODE Data in the UCSC Genome Browser · Variant Annotation Integrator 1. Go to the Variant Annotation Integrator • Tools -> V.A.I. 2. Select Variants: • Variants:

File Formats

File Formats wwwencodeprojectorghelpfile-formats

Help File formats

Custom Tracks

Custom Tracks genomeucsceducgi-binhgCustom

Custom Tracks genomeucsceducgi-binhgCustom

track name=rdquoBED_custom_trackrdquo13 chr7 127471196 127472363 Gene1

Annotating your data BED

Tools Data Integrator

Data Integrator genomeucsceducgi-binhgIntegrator

Data Integrator

Data Integrator

httpgenomeucsceducgi-binhgIntegratorhgsid=43297266

1 of 1 62615 320 PM

Data Integrator ct_SYDHTFBS_4733chrom ct_SYDHTFBS_4733chromStart ct_SYDHTFBS_4733chromEnd ct_SYDHTFBS_4733name ct_SYDHTFBS_4733score wgEncodeGencodeBasicV19name wgEncodeGencodeBasicV19name2chr21 33031473 33032186 608 ENST000004493391 AP0002531 chr21 33031473 33032186 608 ENST000002701426 SOD1 chr21 33031473 33032186 608 ENST000003899954 SOD1 chr21 33031473 33032186 608 ENST000004709441 SOD1

       

Annotating your VCF file

1 Make a VCF custom track 2 Go to the Variant Annotation Integrator 3 Choose your track 4 Add annotations

   

Remotely Hosted Custom Tracks bull Put data file (bigBedbigWigBAMVCF etc)

in internet accessible location bull Must have 1 track info 2 bigDataUrl bull VCF example

track type=vcfTabix name=VCF_Example description=VCF Ex 1 1000 Genomes phase 1interim SNVs bigDataUrl= httphgwdevcseucscedu~paulinepresentationsvcfExamplevcfgz

  

Variant Annotation Integrator13

bull Upload pgSnp or VCF custom track13 bull Associate UCSC annotations with your

uploaded variant calls13 bull Add dbSNP info if dbSNP identifier

found13 bull Select custom track and VAI options13

3713

Variant Annotation Integrator13

Tools Variant Annotation Integrator

Variant Annotation Integrator13 genomeucsceducgi-binhgVai

   

  

Track Data Hubs 13

bull Remotely hosted13 bull Data persistence13 bull File formats 13

bigBED bigWig BAM VCF13 bull Track organization 13

groups supertracks13 bull multiWigs13 bull Assembly hubs13

Track Hubs

My Data Track Hubs

Track Hubs genomeucsceducgi-binhgHubConnect

My Data Track Hubs

My Hubs genomeucsceducgi-binhgHubConnect

My Data Track Hubs

   

Make Your Own Track Hub

You will need bull Data (compressed binary index formats

bigBed bigWig BAM VCF) bull Text files to define properties of the

track hub bull Internet-enabled webftp server bull Assembly Hubs

a twoBit sequence file

Track Hubs genomeucsceducgi-binhgHubConnect

My Data Track Hubs

myHub - directory containing track hub files

hubtxt - a short description of hub properties

genomestxt - list of genome assemblies included

hg19 - directory of data for the hg19 human assembly

Data files BAM bigBed bigWig VCF

An Example Assembly Hub

An Arabidopsis hub13 httpgenome-testcseucscedu

~paulinehubsPlantshubtxt13 13

131313

13

1313

     

Acknowledgements UCSC Genome Browser team

ndash David Haussler ndash co-PI ndash Jim Kent ndash Browser Concept BLAT Team Leader PI ndash Bob Kuhn ndash Associate Director Outreach ndash co-PI ndash Donna Karolchik Ann Zweig ndash Project Management

Engineering QA Docs Support Sys-admins

Angie Hinrichs Katrina Learned Jorge Garcia Pauline Fujita Erich Weiler Kate Rosenbloom

Hiram Clawson Luvina Guruvadoo Gary Moro Steve Heitner Galt Barber

Brian Raney Brian Lee

Max Haeussler Jonathan Caspar Matt Speir

THE GB TEAM

UC Santa Cruz Genomics Institute

Funding Sources

National Human Genome Research Institute (NHGRI)

National Cancer Institute (NCI)

National Institute for Dental and Cranio-Facial Research (NIDCR)

National Institute for Child Health and Human Development (NICHD)

QB3 (UCBerkeley UCSF UCSC)

American Recovery and Reinvestment Act (ARRA) stimulus funds

UC Santa Cruz Genomics Institute

genomeucscedu

THANK YOU

UC Santa Cruz Genomics Institute

   

Exercises 1 Load example BED and VCF tracks via url 2 Look at custom track data by pasting url into a

web browser 3 Annotate the TFBS custom track using the Data

Integrator 4 Annotate the VCF custom track using the Variant

Annotation Integrator

   

     

Exercise 1 Load example BED and VCF tracks via url

1 Go to the Custom tracks menu bull My Data -gt Custom Tracks

2 Input this url httpbitlycustomtracks (note that you must include the rdquohttprdquo part of this url or you will get an error) and click [submit]

3 Click the [Go to genome browser] button 4 Once in the main Browser jump to this position

bull chr2133034804-33037719 5 See if you can drag your 2 custom tracks to the top of

the display

Exercise 2 Exploring your BED and VCF tracks

1 Now that you have 2 custom tracks loaded take a look at the data by pasting that same url into a web browser

2 These custom tracks are actually data copied from some existing tracks see if you can find them turn them on and observe that the original tracks and custom tracks look the same in the browser bull Track 1 (BED format) Group (Regulation) Super

Track (ENC TF Binding) Track (SYDH TFBS) bull Track 2 (VCF format) Group (Variation) Track

(1000G Ph1 Vars) 3 Navigate to this position for best comparison (esp for the

VCF track) chr2133034804-33037719

   

   

Exercise 3 Annotate your BED with the Data Integrator

1 Go to the Data Integrator 2 Once there select

1 Region to annotate chr2133031597-33041570 2 Add data source group (custom tracks) track (SYDHhellip) [click

add]3 Now choose which annotations you want to add by [add]ing more

tracks to the list ndash ex 1 Find the genes that overlap with your regions group (Genes and

Gene Prediction) track (GENCODE V19) view (Genes)subtrack (Basic) [add]

2 Find the SNPs that overlap with your regions group (Variation)track (Common SNPs) [add]

Choose which fields to include in your outputOutput options -gt Choose fields [Done] -gt [get output]

   

   

   

Exercise 4 Annotate your VCF with the

Variant Annotation Integrator

1 Go to the Variant Annotation Integratorbull Tools -gt VAI

2 Select Variants bull Variants ldquoVCF Ex 1helliprdquo

3 Now choose which annotations you want to addbull To determine which gene regions your variants fall into select a

gene track (Select Genes = ldquoBasic Gene Annotation SethellipGENCODErdquo)

bull Add regulatory annotations Under ldquoSelect Regulatory Annotationsrdquo click the ldquo+rdquo button to choose which TFs to include (or select none to include all binding sites)

Bonus Material

Where to search genomeucsceducgi-binhgGateway

Where to search genomeucsceducgi-binhgGateway

Where to search Main Browser genomeucsceducgi-binhgTracks

Public Hubs

My Data Track Hubs

Where to search genomeucsceducgi-binhgHubConnect

Track search

Track search

Track search

Page 26: Visualizing ENCODE Data in the UCSC Genome Browser · Variant Annotation Integrator 1. Go to the Variant Annotation Integrator • Tools -> V.A.I. 2. Select Variants: • Variants:

File Formats wwwencodeprojectorghelpfile-formats

Help File formats

Custom Tracks

Custom Tracks genomeucsceducgi-binhgCustom

Custom Tracks genomeucsceducgi-binhgCustom

track name=rdquoBED_custom_trackrdquo13 chr7 127471196 127472363 Gene1

Annotating your data BED

Tools Data Integrator

Data Integrator genomeucsceducgi-binhgIntegrator

Data Integrator

Data Integrator

httpgenomeucsceducgi-binhgIntegratorhgsid=43297266

1 of 1 62615 320 PM

Data Integrator ct_SYDHTFBS_4733chrom ct_SYDHTFBS_4733chromStart ct_SYDHTFBS_4733chromEnd ct_SYDHTFBS_4733name ct_SYDHTFBS_4733score wgEncodeGencodeBasicV19name wgEncodeGencodeBasicV19name2chr21 33031473 33032186 608 ENST000004493391 AP0002531 chr21 33031473 33032186 608 ENST000002701426 SOD1 chr21 33031473 33032186 608 ENST000003899954 SOD1 chr21 33031473 33032186 608 ENST000004709441 SOD1

       

Annotating your VCF file

1 Make a VCF custom track 2 Go to the Variant Annotation Integrator 3 Choose your track 4 Add annotations

   

Remotely Hosted Custom Tracks bull Put data file (bigBedbigWigBAMVCF etc)

in internet accessible location bull Must have 1 track info 2 bigDataUrl bull VCF example

track type=vcfTabix name=VCF_Example description=VCF Ex 1 1000 Genomes phase 1interim SNVs bigDataUrl= httphgwdevcseucscedu~paulinepresentationsvcfExamplevcfgz

  

Variant Annotation Integrator13

bull Upload pgSnp or VCF custom track13 bull Associate UCSC annotations with your

uploaded variant calls13 bull Add dbSNP info if dbSNP identifier

found13 bull Select custom track and VAI options13

3713

Variant Annotation Integrator13

Tools Variant Annotation Integrator

Variant Annotation Integrator13 genomeucsceducgi-binhgVai

   

  

Track Data Hubs 13

bull Remotely hosted13 bull Data persistence13 bull File formats 13

bigBED bigWig BAM VCF13 bull Track organization 13

groups supertracks13 bull multiWigs13 bull Assembly hubs13

Track Hubs

My Data Track Hubs

Track Hubs genomeucsceducgi-binhgHubConnect

My Data Track Hubs

My Hubs genomeucsceducgi-binhgHubConnect

My Data Track Hubs

   

Make Your Own Track Hub

You will need bull Data (compressed binary index formats

bigBed bigWig BAM VCF) bull Text files to define properties of the

track hub bull Internet-enabled webftp server bull Assembly Hubs

a twoBit sequence file

Track Hubs genomeucsceducgi-binhgHubConnect

My Data Track Hubs

myHub - directory containing track hub files

hubtxt - a short description of hub properties

genomestxt - list of genome assemblies included

hg19 - directory of data for the hg19 human assembly

Data files BAM bigBed bigWig VCF

An Example Assembly Hub

An Arabidopsis hub13 httpgenome-testcseucscedu

~paulinehubsPlantshubtxt13 13

131313

13

1313

     

Acknowledgements UCSC Genome Browser team

ndash David Haussler ndash co-PI ndash Jim Kent ndash Browser Concept BLAT Team Leader PI ndash Bob Kuhn ndash Associate Director Outreach ndash co-PI ndash Donna Karolchik Ann Zweig ndash Project Management

Engineering QA Docs Support Sys-admins

Angie Hinrichs Katrina Learned Jorge Garcia Pauline Fujita Erich Weiler Kate Rosenbloom

Hiram Clawson Luvina Guruvadoo Gary Moro Steve Heitner Galt Barber

Brian Raney Brian Lee

Max Haeussler Jonathan Caspar Matt Speir

THE GB TEAM

UC Santa Cruz Genomics Institute

Funding Sources

National Human Genome Research Institute (NHGRI)

National Cancer Institute (NCI)

National Institute for Dental and Cranio-Facial Research (NIDCR)

National Institute for Child Health and Human Development (NICHD)

QB3 (UCBerkeley UCSF UCSC)

American Recovery and Reinvestment Act (ARRA) stimulus funds

UC Santa Cruz Genomics Institute

genomeucscedu

THANK YOU

UC Santa Cruz Genomics Institute

   

Exercises 1 Load example BED and VCF tracks via url 2 Look at custom track data by pasting url into a

web browser 3 Annotate the TFBS custom track using the Data

Integrator 4 Annotate the VCF custom track using the Variant

Annotation Integrator

   

     

Exercise 1 Load example BED and VCF tracks via url

1 Go to the Custom tracks menu bull My Data -gt Custom Tracks

2 Input this url httpbitlycustomtracks (note that you must include the rdquohttprdquo part of this url or you will get an error) and click [submit]

3 Click the [Go to genome browser] button 4 Once in the main Browser jump to this position

bull chr2133034804-33037719 5 See if you can drag your 2 custom tracks to the top of

the display

Exercise 2 Exploring your BED and VCF tracks

1 Now that you have 2 custom tracks loaded take a look at the data by pasting that same url into a web browser

2 These custom tracks are actually data copied from some existing tracks see if you can find them turn them on and observe that the original tracks and custom tracks look the same in the browser bull Track 1 (BED format) Group (Regulation) Super

Track (ENC TF Binding) Track (SYDH TFBS) bull Track 2 (VCF format) Group (Variation) Track

(1000G Ph1 Vars) 3 Navigate to this position for best comparison (esp for the

VCF track) chr2133034804-33037719

   

   

Exercise 3 Annotate your BED with the Data Integrator

1 Go to the Data Integrator 2 Once there select

1 Region to annotate chr2133031597-33041570 2 Add data source group (custom tracks) track (SYDHhellip) [click

add]3 Now choose which annotations you want to add by [add]ing more

tracks to the list ndash ex 1 Find the genes that overlap with your regions group (Genes and

Gene Prediction) track (GENCODE V19) view (Genes)subtrack (Basic) [add]

2 Find the SNPs that overlap with your regions group (Variation)track (Common SNPs) [add]

Choose which fields to include in your outputOutput options -gt Choose fields [Done] -gt [get output]

   

   

   

Exercise 4 Annotate your VCF with the

Variant Annotation Integrator

1 Go to the Variant Annotation Integratorbull Tools -gt VAI

2 Select Variants bull Variants ldquoVCF Ex 1helliprdquo

3 Now choose which annotations you want to addbull To determine which gene regions your variants fall into select a

gene track (Select Genes = ldquoBasic Gene Annotation SethellipGENCODErdquo)

bull Add regulatory annotations Under ldquoSelect Regulatory Annotationsrdquo click the ldquo+rdquo button to choose which TFs to include (or select none to include all binding sites)

Bonus Material

Where to search genomeucsceducgi-binhgGateway

Where to search genomeucsceducgi-binhgGateway

Where to search Main Browser genomeucsceducgi-binhgTracks

Public Hubs

My Data Track Hubs

Where to search genomeucsceducgi-binhgHubConnect

Track search

Track search

Track search

Page 27: Visualizing ENCODE Data in the UCSC Genome Browser · Variant Annotation Integrator 1. Go to the Variant Annotation Integrator • Tools -> V.A.I. 2. Select Variants: • Variants:

Custom Tracks

Custom Tracks genomeucsceducgi-binhgCustom

Custom Tracks genomeucsceducgi-binhgCustom

track name=rdquoBED_custom_trackrdquo13 chr7 127471196 127472363 Gene1

Annotating your data BED

Tools Data Integrator

Data Integrator genomeucsceducgi-binhgIntegrator

Data Integrator

Data Integrator

httpgenomeucsceducgi-binhgIntegratorhgsid=43297266

1 of 1 62615 320 PM

Data Integrator ct_SYDHTFBS_4733chrom ct_SYDHTFBS_4733chromStart ct_SYDHTFBS_4733chromEnd ct_SYDHTFBS_4733name ct_SYDHTFBS_4733score wgEncodeGencodeBasicV19name wgEncodeGencodeBasicV19name2chr21 33031473 33032186 608 ENST000004493391 AP0002531 chr21 33031473 33032186 608 ENST000002701426 SOD1 chr21 33031473 33032186 608 ENST000003899954 SOD1 chr21 33031473 33032186 608 ENST000004709441 SOD1

       

Annotating your VCF file

1 Make a VCF custom track 2 Go to the Variant Annotation Integrator 3 Choose your track 4 Add annotations

   

Remotely Hosted Custom Tracks bull Put data file (bigBedbigWigBAMVCF etc)

in internet accessible location bull Must have 1 track info 2 bigDataUrl bull VCF example

track type=vcfTabix name=VCF_Example description=VCF Ex 1 1000 Genomes phase 1interim SNVs bigDataUrl= httphgwdevcseucscedu~paulinepresentationsvcfExamplevcfgz

  

Variant Annotation Integrator13

bull Upload pgSnp or VCF custom track13 bull Associate UCSC annotations with your

uploaded variant calls13 bull Add dbSNP info if dbSNP identifier

found13 bull Select custom track and VAI options13

3713

Variant Annotation Integrator13

Tools Variant Annotation Integrator

Variant Annotation Integrator13 genomeucsceducgi-binhgVai

   

  

Track Data Hubs 13

bull Remotely hosted13 bull Data persistence13 bull File formats 13

bigBED bigWig BAM VCF13 bull Track organization 13

groups supertracks13 bull multiWigs13 bull Assembly hubs13

Track Hubs

My Data Track Hubs

Track Hubs genomeucsceducgi-binhgHubConnect

My Data Track Hubs

My Hubs genomeucsceducgi-binhgHubConnect

My Data Track Hubs

   

Make Your Own Track Hub

You will need bull Data (compressed binary index formats

bigBed bigWig BAM VCF) bull Text files to define properties of the

track hub bull Internet-enabled webftp server bull Assembly Hubs

a twoBit sequence file

Track Hubs genomeucsceducgi-binhgHubConnect

My Data Track Hubs

myHub - directory containing track hub files

hubtxt - a short description of hub properties

genomestxt - list of genome assemblies included

hg19 - directory of data for the hg19 human assembly

Data files BAM bigBed bigWig VCF

An Example Assembly Hub

An Arabidopsis hub13 httpgenome-testcseucscedu

~paulinehubsPlantshubtxt13 13

131313

13

1313

     

Acknowledgements UCSC Genome Browser team

ndash David Haussler ndash co-PI ndash Jim Kent ndash Browser Concept BLAT Team Leader PI ndash Bob Kuhn ndash Associate Director Outreach ndash co-PI ndash Donna Karolchik Ann Zweig ndash Project Management

Engineering QA Docs Support Sys-admins

Angie Hinrichs Katrina Learned Jorge Garcia Pauline Fujita Erich Weiler Kate Rosenbloom

Hiram Clawson Luvina Guruvadoo Gary Moro Steve Heitner Galt Barber

Brian Raney Brian Lee

Max Haeussler Jonathan Caspar Matt Speir

THE GB TEAM

UC Santa Cruz Genomics Institute

Funding Sources

National Human Genome Research Institute (NHGRI)

National Cancer Institute (NCI)

National Institute for Dental and Cranio-Facial Research (NIDCR)

National Institute for Child Health and Human Development (NICHD)

QB3 (UCBerkeley UCSF UCSC)

American Recovery and Reinvestment Act (ARRA) stimulus funds

UC Santa Cruz Genomics Institute

genomeucscedu

THANK YOU

UC Santa Cruz Genomics Institute

   

Exercises 1 Load example BED and VCF tracks via url 2 Look at custom track data by pasting url into a

web browser 3 Annotate the TFBS custom track using the Data

Integrator 4 Annotate the VCF custom track using the Variant

Annotation Integrator

   

     

Exercise 1 Load example BED and VCF tracks via url

1 Go to the Custom tracks menu bull My Data -gt Custom Tracks

2 Input this url httpbitlycustomtracks (note that you must include the rdquohttprdquo part of this url or you will get an error) and click [submit]

3 Click the [Go to genome browser] button 4 Once in the main Browser jump to this position

bull chr2133034804-33037719 5 See if you can drag your 2 custom tracks to the top of

the display

Exercise 2 Exploring your BED and VCF tracks

1 Now that you have 2 custom tracks loaded take a look at the data by pasting that same url into a web browser

2 These custom tracks are actually data copied from some existing tracks see if you can find them turn them on and observe that the original tracks and custom tracks look the same in the browser bull Track 1 (BED format) Group (Regulation) Super

Track (ENC TF Binding) Track (SYDH TFBS) bull Track 2 (VCF format) Group (Variation) Track

(1000G Ph1 Vars) 3 Navigate to this position for best comparison (esp for the

VCF track) chr2133034804-33037719

   

   

Exercise 3 Annotate your BED with the Data Integrator

1 Go to the Data Integrator 2 Once there select

1 Region to annotate chr2133031597-33041570 2 Add data source group (custom tracks) track (SYDHhellip) [click

add]3 Now choose which annotations you want to add by [add]ing more

tracks to the list ndash ex 1 Find the genes that overlap with your regions group (Genes and

Gene Prediction) track (GENCODE V19) view (Genes)subtrack (Basic) [add]

2 Find the SNPs that overlap with your regions group (Variation)track (Common SNPs) [add]

Choose which fields to include in your outputOutput options -gt Choose fields [Done] -gt [get output]

   

   

   

Exercise 4 Annotate your VCF with the

Variant Annotation Integrator

1 Go to the Variant Annotation Integratorbull Tools -gt VAI

2 Select Variants bull Variants ldquoVCF Ex 1helliprdquo

3 Now choose which annotations you want to addbull To determine which gene regions your variants fall into select a

gene track (Select Genes = ldquoBasic Gene Annotation SethellipGENCODErdquo)

bull Add regulatory annotations Under ldquoSelect Regulatory Annotationsrdquo click the ldquo+rdquo button to choose which TFs to include (or select none to include all binding sites)

Bonus Material

Where to search genomeucsceducgi-binhgGateway

Where to search genomeucsceducgi-binhgGateway

Where to search Main Browser genomeucsceducgi-binhgTracks

Public Hubs

My Data Track Hubs

Where to search genomeucsceducgi-binhgHubConnect

Track search

Track search

Track search

Page 28: Visualizing ENCODE Data in the UCSC Genome Browser · Variant Annotation Integrator 1. Go to the Variant Annotation Integrator • Tools -> V.A.I. 2. Select Variants: • Variants:

Custom Tracks genomeucsceducgi-binhgCustom

Custom Tracks genomeucsceducgi-binhgCustom

track name=rdquoBED_custom_trackrdquo13 chr7 127471196 127472363 Gene1

Annotating your data BED

Tools Data Integrator

Data Integrator genomeucsceducgi-binhgIntegrator

Data Integrator

Data Integrator

httpgenomeucsceducgi-binhgIntegratorhgsid=43297266

1 of 1 62615 320 PM

Data Integrator ct_SYDHTFBS_4733chrom ct_SYDHTFBS_4733chromStart ct_SYDHTFBS_4733chromEnd ct_SYDHTFBS_4733name ct_SYDHTFBS_4733score wgEncodeGencodeBasicV19name wgEncodeGencodeBasicV19name2chr21 33031473 33032186 608 ENST000004493391 AP0002531 chr21 33031473 33032186 608 ENST000002701426 SOD1 chr21 33031473 33032186 608 ENST000003899954 SOD1 chr21 33031473 33032186 608 ENST000004709441 SOD1

       

Annotating your VCF file

1 Make a VCF custom track 2 Go to the Variant Annotation Integrator 3 Choose your track 4 Add annotations

   

Remotely Hosted Custom Tracks bull Put data file (bigBedbigWigBAMVCF etc)

in internet accessible location bull Must have 1 track info 2 bigDataUrl bull VCF example

track type=vcfTabix name=VCF_Example description=VCF Ex 1 1000 Genomes phase 1interim SNVs bigDataUrl= httphgwdevcseucscedu~paulinepresentationsvcfExamplevcfgz

  

Variant Annotation Integrator13

bull Upload pgSnp or VCF custom track13 bull Associate UCSC annotations with your

uploaded variant calls13 bull Add dbSNP info if dbSNP identifier

found13 bull Select custom track and VAI options13

3713

Variant Annotation Integrator13

Tools Variant Annotation Integrator

Variant Annotation Integrator13 genomeucsceducgi-binhgVai

   

  

Track Data Hubs 13

bull Remotely hosted13 bull Data persistence13 bull File formats 13

bigBED bigWig BAM VCF13 bull Track organization 13

groups supertracks13 bull multiWigs13 bull Assembly hubs13

Track Hubs

My Data Track Hubs

Track Hubs genomeucsceducgi-binhgHubConnect

My Data Track Hubs

My Hubs genomeucsceducgi-binhgHubConnect

My Data Track Hubs

   

Make Your Own Track Hub

You will need bull Data (compressed binary index formats

bigBed bigWig BAM VCF) bull Text files to define properties of the

track hub bull Internet-enabled webftp server bull Assembly Hubs

a twoBit sequence file

Track Hubs genomeucsceducgi-binhgHubConnect

My Data Track Hubs

myHub - directory containing track hub files

hubtxt - a short description of hub properties

genomestxt - list of genome assemblies included

hg19 - directory of data for the hg19 human assembly

Data files BAM bigBed bigWig VCF

An Example Assembly Hub

An Arabidopsis hub13 httpgenome-testcseucscedu

~paulinehubsPlantshubtxt13 13

131313

13

1313

     

Acknowledgements UCSC Genome Browser team

ndash David Haussler ndash co-PI ndash Jim Kent ndash Browser Concept BLAT Team Leader PI ndash Bob Kuhn ndash Associate Director Outreach ndash co-PI ndash Donna Karolchik Ann Zweig ndash Project Management

Engineering QA Docs Support Sys-admins

Angie Hinrichs Katrina Learned Jorge Garcia Pauline Fujita Erich Weiler Kate Rosenbloom

Hiram Clawson Luvina Guruvadoo Gary Moro Steve Heitner Galt Barber

Brian Raney Brian Lee

Max Haeussler Jonathan Caspar Matt Speir

THE GB TEAM

UC Santa Cruz Genomics Institute

Funding Sources

National Human Genome Research Institute (NHGRI)

National Cancer Institute (NCI)

National Institute for Dental and Cranio-Facial Research (NIDCR)

National Institute for Child Health and Human Development (NICHD)

QB3 (UCBerkeley UCSF UCSC)

American Recovery and Reinvestment Act (ARRA) stimulus funds

UC Santa Cruz Genomics Institute

genomeucscedu

THANK YOU

UC Santa Cruz Genomics Institute

   

Exercises 1 Load example BED and VCF tracks via url 2 Look at custom track data by pasting url into a

web browser 3 Annotate the TFBS custom track using the Data

Integrator 4 Annotate the VCF custom track using the Variant

Annotation Integrator

   

     

Exercise 1 Load example BED and VCF tracks via url

1 Go to the Custom tracks menu bull My Data -gt Custom Tracks

2 Input this url httpbitlycustomtracks (note that you must include the rdquohttprdquo part of this url or you will get an error) and click [submit]

3 Click the [Go to genome browser] button 4 Once in the main Browser jump to this position

bull chr2133034804-33037719 5 See if you can drag your 2 custom tracks to the top of

the display

Exercise 2 Exploring your BED and VCF tracks

1 Now that you have 2 custom tracks loaded take a look at the data by pasting that same url into a web browser

2 These custom tracks are actually data copied from some existing tracks see if you can find them turn them on and observe that the original tracks and custom tracks look the same in the browser bull Track 1 (BED format) Group (Regulation) Super

Track (ENC TF Binding) Track (SYDH TFBS) bull Track 2 (VCF format) Group (Variation) Track

(1000G Ph1 Vars) 3 Navigate to this position for best comparison (esp for the

VCF track) chr2133034804-33037719

   

   

Exercise 3 Annotate your BED with the Data Integrator

1 Go to the Data Integrator 2 Once there select

1 Region to annotate chr2133031597-33041570 2 Add data source group (custom tracks) track (SYDHhellip) [click

add]3 Now choose which annotations you want to add by [add]ing more

tracks to the list ndash ex 1 Find the genes that overlap with your regions group (Genes and

Gene Prediction) track (GENCODE V19) view (Genes)subtrack (Basic) [add]

2 Find the SNPs that overlap with your regions group (Variation)track (Common SNPs) [add]

Choose which fields to include in your outputOutput options -gt Choose fields [Done] -gt [get output]

   

   

   

Exercise 4 Annotate your VCF with the

Variant Annotation Integrator

1 Go to the Variant Annotation Integratorbull Tools -gt VAI

2 Select Variants bull Variants ldquoVCF Ex 1helliprdquo

3 Now choose which annotations you want to addbull To determine which gene regions your variants fall into select a

gene track (Select Genes = ldquoBasic Gene Annotation SethellipGENCODErdquo)

bull Add regulatory annotations Under ldquoSelect Regulatory Annotationsrdquo click the ldquo+rdquo button to choose which TFs to include (or select none to include all binding sites)

Bonus Material

Where to search genomeucsceducgi-binhgGateway

Where to search genomeucsceducgi-binhgGateway

Where to search Main Browser genomeucsceducgi-binhgTracks

Public Hubs

My Data Track Hubs

Where to search genomeucsceducgi-binhgHubConnect

Track search

Track search

Track search

Page 29: Visualizing ENCODE Data in the UCSC Genome Browser · Variant Annotation Integrator 1. Go to the Variant Annotation Integrator • Tools -> V.A.I. 2. Select Variants: • Variants:

Custom Tracks genomeucsceducgi-binhgCustom

track name=rdquoBED_custom_trackrdquo13 chr7 127471196 127472363 Gene1

Annotating your data BED

Tools Data Integrator

Data Integrator genomeucsceducgi-binhgIntegrator

Data Integrator

Data Integrator

httpgenomeucsceducgi-binhgIntegratorhgsid=43297266

1 of 1 62615 320 PM

Data Integrator ct_SYDHTFBS_4733chrom ct_SYDHTFBS_4733chromStart ct_SYDHTFBS_4733chromEnd ct_SYDHTFBS_4733name ct_SYDHTFBS_4733score wgEncodeGencodeBasicV19name wgEncodeGencodeBasicV19name2chr21 33031473 33032186 608 ENST000004493391 AP0002531 chr21 33031473 33032186 608 ENST000002701426 SOD1 chr21 33031473 33032186 608 ENST000003899954 SOD1 chr21 33031473 33032186 608 ENST000004709441 SOD1

       

Annotating your VCF file

1 Make a VCF custom track 2 Go to the Variant Annotation Integrator 3 Choose your track 4 Add annotations

   

Remotely Hosted Custom Tracks bull Put data file (bigBedbigWigBAMVCF etc)

in internet accessible location bull Must have 1 track info 2 bigDataUrl bull VCF example

track type=vcfTabix name=VCF_Example description=VCF Ex 1 1000 Genomes phase 1interim SNVs bigDataUrl= httphgwdevcseucscedu~paulinepresentationsvcfExamplevcfgz

  

Variant Annotation Integrator13

bull Upload pgSnp or VCF custom track13 bull Associate UCSC annotations with your

uploaded variant calls13 bull Add dbSNP info if dbSNP identifier

found13 bull Select custom track and VAI options13

3713

Variant Annotation Integrator13

Tools Variant Annotation Integrator

Variant Annotation Integrator13 genomeucsceducgi-binhgVai

   

  

Track Data Hubs 13

bull Remotely hosted13 bull Data persistence13 bull File formats 13

bigBED bigWig BAM VCF13 bull Track organization 13

groups supertracks13 bull multiWigs13 bull Assembly hubs13

Track Hubs

My Data Track Hubs

Track Hubs genomeucsceducgi-binhgHubConnect

My Data Track Hubs

My Hubs genomeucsceducgi-binhgHubConnect

My Data Track Hubs

   

Make Your Own Track Hub

You will need bull Data (compressed binary index formats

bigBed bigWig BAM VCF) bull Text files to define properties of the

track hub bull Internet-enabled webftp server bull Assembly Hubs

a twoBit sequence file

Track Hubs genomeucsceducgi-binhgHubConnect

My Data Track Hubs

myHub - directory containing track hub files

hubtxt - a short description of hub properties

genomestxt - list of genome assemblies included

hg19 - directory of data for the hg19 human assembly

Data files BAM bigBed bigWig VCF

An Example Assembly Hub

An Arabidopsis hub13 httpgenome-testcseucscedu

~paulinehubsPlantshubtxt13 13

131313

13

1313

     

Acknowledgements UCSC Genome Browser team

ndash David Haussler ndash co-PI ndash Jim Kent ndash Browser Concept BLAT Team Leader PI ndash Bob Kuhn ndash Associate Director Outreach ndash co-PI ndash Donna Karolchik Ann Zweig ndash Project Management

Engineering QA Docs Support Sys-admins

Angie Hinrichs Katrina Learned Jorge Garcia Pauline Fujita Erich Weiler Kate Rosenbloom

Hiram Clawson Luvina Guruvadoo Gary Moro Steve Heitner Galt Barber

Brian Raney Brian Lee

Max Haeussler Jonathan Caspar Matt Speir

THE GB TEAM

UC Santa Cruz Genomics Institute

Funding Sources

National Human Genome Research Institute (NHGRI)

National Cancer Institute (NCI)

National Institute for Dental and Cranio-Facial Research (NIDCR)

National Institute for Child Health and Human Development (NICHD)

QB3 (UCBerkeley UCSF UCSC)

American Recovery and Reinvestment Act (ARRA) stimulus funds

UC Santa Cruz Genomics Institute

genomeucscedu

THANK YOU

UC Santa Cruz Genomics Institute

   

Exercises 1 Load example BED and VCF tracks via url 2 Look at custom track data by pasting url into a

web browser 3 Annotate the TFBS custom track using the Data

Integrator 4 Annotate the VCF custom track using the Variant

Annotation Integrator

   

     

Exercise 1 Load example BED and VCF tracks via url

1 Go to the Custom tracks menu bull My Data -gt Custom Tracks

2 Input this url httpbitlycustomtracks (note that you must include the rdquohttprdquo part of this url or you will get an error) and click [submit]

3 Click the [Go to genome browser] button 4 Once in the main Browser jump to this position

bull chr2133034804-33037719 5 See if you can drag your 2 custom tracks to the top of

the display

Exercise 2 Exploring your BED and VCF tracks

1 Now that you have 2 custom tracks loaded take a look at the data by pasting that same url into a web browser

2 These custom tracks are actually data copied from some existing tracks see if you can find them turn them on and observe that the original tracks and custom tracks look the same in the browser bull Track 1 (BED format) Group (Regulation) Super

Track (ENC TF Binding) Track (SYDH TFBS) bull Track 2 (VCF format) Group (Variation) Track

(1000G Ph1 Vars) 3 Navigate to this position for best comparison (esp for the

VCF track) chr2133034804-33037719

   

   

Exercise 3 Annotate your BED with the Data Integrator

1 Go to the Data Integrator 2 Once there select

1 Region to annotate chr2133031597-33041570 2 Add data source group (custom tracks) track (SYDHhellip) [click

add]3 Now choose which annotations you want to add by [add]ing more

tracks to the list ndash ex 1 Find the genes that overlap with your regions group (Genes and

Gene Prediction) track (GENCODE V19) view (Genes)subtrack (Basic) [add]

2 Find the SNPs that overlap with your regions group (Variation)track (Common SNPs) [add]

Choose which fields to include in your outputOutput options -gt Choose fields [Done] -gt [get output]

   

   

   

Exercise 4 Annotate your VCF with the

Variant Annotation Integrator

1 Go to the Variant Annotation Integratorbull Tools -gt VAI

2 Select Variants bull Variants ldquoVCF Ex 1helliprdquo

3 Now choose which annotations you want to addbull To determine which gene regions your variants fall into select a

gene track (Select Genes = ldquoBasic Gene Annotation SethellipGENCODErdquo)

bull Add regulatory annotations Under ldquoSelect Regulatory Annotationsrdquo click the ldquo+rdquo button to choose which TFs to include (or select none to include all binding sites)

Bonus Material

Where to search genomeucsceducgi-binhgGateway

Where to search genomeucsceducgi-binhgGateway

Where to search Main Browser genomeucsceducgi-binhgTracks

Public Hubs

My Data Track Hubs

Where to search genomeucsceducgi-binhgHubConnect

Track search

Track search

Track search

Page 30: Visualizing ENCODE Data in the UCSC Genome Browser · Variant Annotation Integrator 1. Go to the Variant Annotation Integrator • Tools -> V.A.I. 2. Select Variants: • Variants:

Annotating your data BED

Tools Data Integrator

Data Integrator genomeucsceducgi-binhgIntegrator

Data Integrator

Data Integrator

httpgenomeucsceducgi-binhgIntegratorhgsid=43297266

1 of 1 62615 320 PM

Data Integrator ct_SYDHTFBS_4733chrom ct_SYDHTFBS_4733chromStart ct_SYDHTFBS_4733chromEnd ct_SYDHTFBS_4733name ct_SYDHTFBS_4733score wgEncodeGencodeBasicV19name wgEncodeGencodeBasicV19name2chr21 33031473 33032186 608 ENST000004493391 AP0002531 chr21 33031473 33032186 608 ENST000002701426 SOD1 chr21 33031473 33032186 608 ENST000003899954 SOD1 chr21 33031473 33032186 608 ENST000004709441 SOD1

       

Annotating your VCF file

1 Make a VCF custom track 2 Go to the Variant Annotation Integrator 3 Choose your track 4 Add annotations

   

Remotely Hosted Custom Tracks bull Put data file (bigBedbigWigBAMVCF etc)

in internet accessible location bull Must have 1 track info 2 bigDataUrl bull VCF example

track type=vcfTabix name=VCF_Example description=VCF Ex 1 1000 Genomes phase 1interim SNVs bigDataUrl= httphgwdevcseucscedu~paulinepresentationsvcfExamplevcfgz

  

Variant Annotation Integrator13

bull Upload pgSnp or VCF custom track13 bull Associate UCSC annotations with your

uploaded variant calls13 bull Add dbSNP info if dbSNP identifier

found13 bull Select custom track and VAI options13

3713

Variant Annotation Integrator13

Tools Variant Annotation Integrator

Variant Annotation Integrator13 genomeucsceducgi-binhgVai

   

  

Track Data Hubs 13

bull Remotely hosted13 bull Data persistence13 bull File formats 13

bigBED bigWig BAM VCF13 bull Track organization 13

groups supertracks13 bull multiWigs13 bull Assembly hubs13

Track Hubs

My Data Track Hubs

Track Hubs genomeucsceducgi-binhgHubConnect

My Data Track Hubs

My Hubs genomeucsceducgi-binhgHubConnect

My Data Track Hubs

   

Make Your Own Track Hub

You will need bull Data (compressed binary index formats

bigBed bigWig BAM VCF) bull Text files to define properties of the

track hub bull Internet-enabled webftp server bull Assembly Hubs

a twoBit sequence file

Track Hubs genomeucsceducgi-binhgHubConnect

My Data Track Hubs

myHub - directory containing track hub files

hubtxt - a short description of hub properties

genomestxt - list of genome assemblies included

hg19 - directory of data for the hg19 human assembly

Data files BAM bigBed bigWig VCF

An Example Assembly Hub

An Arabidopsis hub13 httpgenome-testcseucscedu

~paulinehubsPlantshubtxt13 13

131313

13

1313

     

Acknowledgements UCSC Genome Browser team

ndash David Haussler ndash co-PI ndash Jim Kent ndash Browser Concept BLAT Team Leader PI ndash Bob Kuhn ndash Associate Director Outreach ndash co-PI ndash Donna Karolchik Ann Zweig ndash Project Management

Engineering QA Docs Support Sys-admins

Angie Hinrichs Katrina Learned Jorge Garcia Pauline Fujita Erich Weiler Kate Rosenbloom

Hiram Clawson Luvina Guruvadoo Gary Moro Steve Heitner Galt Barber

Brian Raney Brian Lee

Max Haeussler Jonathan Caspar Matt Speir

THE GB TEAM

UC Santa Cruz Genomics Institute

Funding Sources

National Human Genome Research Institute (NHGRI)

National Cancer Institute (NCI)

National Institute for Dental and Cranio-Facial Research (NIDCR)

National Institute for Child Health and Human Development (NICHD)

QB3 (UCBerkeley UCSF UCSC)

American Recovery and Reinvestment Act (ARRA) stimulus funds

UC Santa Cruz Genomics Institute

genomeucscedu

THANK YOU

UC Santa Cruz Genomics Institute

   

Exercises 1 Load example BED and VCF tracks via url 2 Look at custom track data by pasting url into a

web browser 3 Annotate the TFBS custom track using the Data

Integrator 4 Annotate the VCF custom track using the Variant

Annotation Integrator

   

     

Exercise 1 Load example BED and VCF tracks via url

1 Go to the Custom tracks menu bull My Data -gt Custom Tracks

2 Input this url httpbitlycustomtracks (note that you must include the rdquohttprdquo part of this url or you will get an error) and click [submit]

3 Click the [Go to genome browser] button 4 Once in the main Browser jump to this position

bull chr2133034804-33037719 5 See if you can drag your 2 custom tracks to the top of

the display

Exercise 2 Exploring your BED and VCF tracks

1 Now that you have 2 custom tracks loaded take a look at the data by pasting that same url into a web browser

2 These custom tracks are actually data copied from some existing tracks see if you can find them turn them on and observe that the original tracks and custom tracks look the same in the browser bull Track 1 (BED format) Group (Regulation) Super

Track (ENC TF Binding) Track (SYDH TFBS) bull Track 2 (VCF format) Group (Variation) Track

(1000G Ph1 Vars) 3 Navigate to this position for best comparison (esp for the

VCF track) chr2133034804-33037719

   

   

Exercise 3 Annotate your BED with the Data Integrator

1 Go to the Data Integrator 2 Once there select

1 Region to annotate chr2133031597-33041570 2 Add data source group (custom tracks) track (SYDHhellip) [click

add]3 Now choose which annotations you want to add by [add]ing more

tracks to the list ndash ex 1 Find the genes that overlap with your regions group (Genes and

Gene Prediction) track (GENCODE V19) view (Genes)subtrack (Basic) [add]

2 Find the SNPs that overlap with your regions group (Variation)track (Common SNPs) [add]

Choose which fields to include in your outputOutput options -gt Choose fields [Done] -gt [get output]

   

   

   

Exercise 4 Annotate your VCF with the

Variant Annotation Integrator

1 Go to the Variant Annotation Integratorbull Tools -gt VAI

2 Select Variants bull Variants ldquoVCF Ex 1helliprdquo

3 Now choose which annotations you want to addbull To determine which gene regions your variants fall into select a

gene track (Select Genes = ldquoBasic Gene Annotation SethellipGENCODErdquo)

bull Add regulatory annotations Under ldquoSelect Regulatory Annotationsrdquo click the ldquo+rdquo button to choose which TFs to include (or select none to include all binding sites)

Bonus Material

Where to search genomeucsceducgi-binhgGateway

Where to search genomeucsceducgi-binhgGateway

Where to search Main Browser genomeucsceducgi-binhgTracks

Public Hubs

My Data Track Hubs

Where to search genomeucsceducgi-binhgHubConnect

Track search

Track search

Track search

Page 31: Visualizing ENCODE Data in the UCSC Genome Browser · Variant Annotation Integrator 1. Go to the Variant Annotation Integrator • Tools -> V.A.I. 2. Select Variants: • Variants:

Data Integrator genomeucsceducgi-binhgIntegrator

Data Integrator

Data Integrator

httpgenomeucsceducgi-binhgIntegratorhgsid=43297266

1 of 1 62615 320 PM

Data Integrator ct_SYDHTFBS_4733chrom ct_SYDHTFBS_4733chromStart ct_SYDHTFBS_4733chromEnd ct_SYDHTFBS_4733name ct_SYDHTFBS_4733score wgEncodeGencodeBasicV19name wgEncodeGencodeBasicV19name2chr21 33031473 33032186 608 ENST000004493391 AP0002531 chr21 33031473 33032186 608 ENST000002701426 SOD1 chr21 33031473 33032186 608 ENST000003899954 SOD1 chr21 33031473 33032186 608 ENST000004709441 SOD1

       

Annotating your VCF file

1 Make a VCF custom track 2 Go to the Variant Annotation Integrator 3 Choose your track 4 Add annotations

   

Remotely Hosted Custom Tracks bull Put data file (bigBedbigWigBAMVCF etc)

in internet accessible location bull Must have 1 track info 2 bigDataUrl bull VCF example

track type=vcfTabix name=VCF_Example description=VCF Ex 1 1000 Genomes phase 1interim SNVs bigDataUrl= httphgwdevcseucscedu~paulinepresentationsvcfExamplevcfgz

  

Variant Annotation Integrator13

bull Upload pgSnp or VCF custom track13 bull Associate UCSC annotations with your

uploaded variant calls13 bull Add dbSNP info if dbSNP identifier

found13 bull Select custom track and VAI options13

3713

Variant Annotation Integrator13

Tools Variant Annotation Integrator

Variant Annotation Integrator13 genomeucsceducgi-binhgVai

   

  

Track Data Hubs 13

bull Remotely hosted13 bull Data persistence13 bull File formats 13

bigBED bigWig BAM VCF13 bull Track organization 13

groups supertracks13 bull multiWigs13 bull Assembly hubs13

Track Hubs

My Data Track Hubs

Track Hubs genomeucsceducgi-binhgHubConnect

My Data Track Hubs

My Hubs genomeucsceducgi-binhgHubConnect

My Data Track Hubs

   

Make Your Own Track Hub

You will need bull Data (compressed binary index formats

bigBed bigWig BAM VCF) bull Text files to define properties of the

track hub bull Internet-enabled webftp server bull Assembly Hubs

a twoBit sequence file

Track Hubs genomeucsceducgi-binhgHubConnect

My Data Track Hubs

myHub - directory containing track hub files

hubtxt - a short description of hub properties

genomestxt - list of genome assemblies included

hg19 - directory of data for the hg19 human assembly

Data files BAM bigBed bigWig VCF

An Example Assembly Hub

An Arabidopsis hub13 httpgenome-testcseucscedu

~paulinehubsPlantshubtxt13 13

131313

13

1313

     

Acknowledgements UCSC Genome Browser team

ndash David Haussler ndash co-PI ndash Jim Kent ndash Browser Concept BLAT Team Leader PI ndash Bob Kuhn ndash Associate Director Outreach ndash co-PI ndash Donna Karolchik Ann Zweig ndash Project Management

Engineering QA Docs Support Sys-admins

Angie Hinrichs Katrina Learned Jorge Garcia Pauline Fujita Erich Weiler Kate Rosenbloom

Hiram Clawson Luvina Guruvadoo Gary Moro Steve Heitner Galt Barber

Brian Raney Brian Lee

Max Haeussler Jonathan Caspar Matt Speir

THE GB TEAM

UC Santa Cruz Genomics Institute

Funding Sources

National Human Genome Research Institute (NHGRI)

National Cancer Institute (NCI)

National Institute for Dental and Cranio-Facial Research (NIDCR)

National Institute for Child Health and Human Development (NICHD)

QB3 (UCBerkeley UCSF UCSC)

American Recovery and Reinvestment Act (ARRA) stimulus funds

UC Santa Cruz Genomics Institute

genomeucscedu

THANK YOU

UC Santa Cruz Genomics Institute

   

Exercises 1 Load example BED and VCF tracks via url 2 Look at custom track data by pasting url into a

web browser 3 Annotate the TFBS custom track using the Data

Integrator 4 Annotate the VCF custom track using the Variant

Annotation Integrator

   

     

Exercise 1 Load example BED and VCF tracks via url

1 Go to the Custom tracks menu bull My Data -gt Custom Tracks

2 Input this url httpbitlycustomtracks (note that you must include the rdquohttprdquo part of this url or you will get an error) and click [submit]

3 Click the [Go to genome browser] button 4 Once in the main Browser jump to this position

bull chr2133034804-33037719 5 See if you can drag your 2 custom tracks to the top of

the display

Exercise 2 Exploring your BED and VCF tracks

1 Now that you have 2 custom tracks loaded take a look at the data by pasting that same url into a web browser

2 These custom tracks are actually data copied from some existing tracks see if you can find them turn them on and observe that the original tracks and custom tracks look the same in the browser bull Track 1 (BED format) Group (Regulation) Super

Track (ENC TF Binding) Track (SYDH TFBS) bull Track 2 (VCF format) Group (Variation) Track

(1000G Ph1 Vars) 3 Navigate to this position for best comparison (esp for the

VCF track) chr2133034804-33037719

   

   

Exercise 3 Annotate your BED with the Data Integrator

1 Go to the Data Integrator 2 Once there select

1 Region to annotate chr2133031597-33041570 2 Add data source group (custom tracks) track (SYDHhellip) [click

add]3 Now choose which annotations you want to add by [add]ing more

tracks to the list ndash ex 1 Find the genes that overlap with your regions group (Genes and

Gene Prediction) track (GENCODE V19) view (Genes)subtrack (Basic) [add]

2 Find the SNPs that overlap with your regions group (Variation)track (Common SNPs) [add]

Choose which fields to include in your outputOutput options -gt Choose fields [Done] -gt [get output]

   

   

   

Exercise 4 Annotate your VCF with the

Variant Annotation Integrator

1 Go to the Variant Annotation Integratorbull Tools -gt VAI

2 Select Variants bull Variants ldquoVCF Ex 1helliprdquo

3 Now choose which annotations you want to addbull To determine which gene regions your variants fall into select a

gene track (Select Genes = ldquoBasic Gene Annotation SethellipGENCODErdquo)

bull Add regulatory annotations Under ldquoSelect Regulatory Annotationsrdquo click the ldquo+rdquo button to choose which TFs to include (or select none to include all binding sites)

Bonus Material

Where to search genomeucsceducgi-binhgGateway

Where to search genomeucsceducgi-binhgGateway

Where to search Main Browser genomeucsceducgi-binhgTracks

Public Hubs

My Data Track Hubs

Where to search genomeucsceducgi-binhgHubConnect

Track search

Track search

Track search

Page 32: Visualizing ENCODE Data in the UCSC Genome Browser · Variant Annotation Integrator 1. Go to the Variant Annotation Integrator • Tools -> V.A.I. 2. Select Variants: • Variants:

Data Integrator

Data Integrator

httpgenomeucsceducgi-binhgIntegratorhgsid=43297266

1 of 1 62615 320 PM

Data Integrator ct_SYDHTFBS_4733chrom ct_SYDHTFBS_4733chromStart ct_SYDHTFBS_4733chromEnd ct_SYDHTFBS_4733name ct_SYDHTFBS_4733score wgEncodeGencodeBasicV19name wgEncodeGencodeBasicV19name2chr21 33031473 33032186 608 ENST000004493391 AP0002531 chr21 33031473 33032186 608 ENST000002701426 SOD1 chr21 33031473 33032186 608 ENST000003899954 SOD1 chr21 33031473 33032186 608 ENST000004709441 SOD1

       

Annotating your VCF file

1 Make a VCF custom track 2 Go to the Variant Annotation Integrator 3 Choose your track 4 Add annotations

   

Remotely Hosted Custom Tracks bull Put data file (bigBedbigWigBAMVCF etc)

in internet accessible location bull Must have 1 track info 2 bigDataUrl bull VCF example

track type=vcfTabix name=VCF_Example description=VCF Ex 1 1000 Genomes phase 1interim SNVs bigDataUrl= httphgwdevcseucscedu~paulinepresentationsvcfExamplevcfgz

  

Variant Annotation Integrator13

bull Upload pgSnp or VCF custom track13 bull Associate UCSC annotations with your

uploaded variant calls13 bull Add dbSNP info if dbSNP identifier

found13 bull Select custom track and VAI options13

3713

Variant Annotation Integrator13

Tools Variant Annotation Integrator

Variant Annotation Integrator13 genomeucsceducgi-binhgVai

   

  

Track Data Hubs 13

bull Remotely hosted13 bull Data persistence13 bull File formats 13

bigBED bigWig BAM VCF13 bull Track organization 13

groups supertracks13 bull multiWigs13 bull Assembly hubs13

Track Hubs

My Data Track Hubs

Track Hubs genomeucsceducgi-binhgHubConnect

My Data Track Hubs

My Hubs genomeucsceducgi-binhgHubConnect

My Data Track Hubs

   

Make Your Own Track Hub

You will need bull Data (compressed binary index formats

bigBed bigWig BAM VCF) bull Text files to define properties of the

track hub bull Internet-enabled webftp server bull Assembly Hubs

a twoBit sequence file

Track Hubs genomeucsceducgi-binhgHubConnect

My Data Track Hubs

myHub - directory containing track hub files

hubtxt - a short description of hub properties

genomestxt - list of genome assemblies included

hg19 - directory of data for the hg19 human assembly

Data files BAM bigBed bigWig VCF

An Example Assembly Hub

An Arabidopsis hub13 httpgenome-testcseucscedu

~paulinehubsPlantshubtxt13 13

131313

13

1313

     

Acknowledgements UCSC Genome Browser team

ndash David Haussler ndash co-PI ndash Jim Kent ndash Browser Concept BLAT Team Leader PI ndash Bob Kuhn ndash Associate Director Outreach ndash co-PI ndash Donna Karolchik Ann Zweig ndash Project Management

Engineering QA Docs Support Sys-admins

Angie Hinrichs Katrina Learned Jorge Garcia Pauline Fujita Erich Weiler Kate Rosenbloom

Hiram Clawson Luvina Guruvadoo Gary Moro Steve Heitner Galt Barber

Brian Raney Brian Lee

Max Haeussler Jonathan Caspar Matt Speir

THE GB TEAM

UC Santa Cruz Genomics Institute

Funding Sources

National Human Genome Research Institute (NHGRI)

National Cancer Institute (NCI)

National Institute for Dental and Cranio-Facial Research (NIDCR)

National Institute for Child Health and Human Development (NICHD)

QB3 (UCBerkeley UCSF UCSC)

American Recovery and Reinvestment Act (ARRA) stimulus funds

UC Santa Cruz Genomics Institute

genomeucscedu

THANK YOU

UC Santa Cruz Genomics Institute

   

Exercises 1 Load example BED and VCF tracks via url 2 Look at custom track data by pasting url into a

web browser 3 Annotate the TFBS custom track using the Data

Integrator 4 Annotate the VCF custom track using the Variant

Annotation Integrator

   

     

Exercise 1 Load example BED and VCF tracks via url

1 Go to the Custom tracks menu bull My Data -gt Custom Tracks

2 Input this url httpbitlycustomtracks (note that you must include the rdquohttprdquo part of this url or you will get an error) and click [submit]

3 Click the [Go to genome browser] button 4 Once in the main Browser jump to this position

bull chr2133034804-33037719 5 See if you can drag your 2 custom tracks to the top of

the display

Exercise 2 Exploring your BED and VCF tracks

1 Now that you have 2 custom tracks loaded take a look at the data by pasting that same url into a web browser

2 These custom tracks are actually data copied from some existing tracks see if you can find them turn them on and observe that the original tracks and custom tracks look the same in the browser bull Track 1 (BED format) Group (Regulation) Super

Track (ENC TF Binding) Track (SYDH TFBS) bull Track 2 (VCF format) Group (Variation) Track

(1000G Ph1 Vars) 3 Navigate to this position for best comparison (esp for the

VCF track) chr2133034804-33037719

   

   

Exercise 3 Annotate your BED with the Data Integrator

1 Go to the Data Integrator 2 Once there select

1 Region to annotate chr2133031597-33041570 2 Add data source group (custom tracks) track (SYDHhellip) [click

add]3 Now choose which annotations you want to add by [add]ing more

tracks to the list ndash ex 1 Find the genes that overlap with your regions group (Genes and

Gene Prediction) track (GENCODE V19) view (Genes)subtrack (Basic) [add]

2 Find the SNPs that overlap with your regions group (Variation)track (Common SNPs) [add]

Choose which fields to include in your outputOutput options -gt Choose fields [Done] -gt [get output]

   

   

   

Exercise 4 Annotate your VCF with the

Variant Annotation Integrator

1 Go to the Variant Annotation Integratorbull Tools -gt VAI

2 Select Variants bull Variants ldquoVCF Ex 1helliprdquo

3 Now choose which annotations you want to addbull To determine which gene regions your variants fall into select a

gene track (Select Genes = ldquoBasic Gene Annotation SethellipGENCODErdquo)

bull Add regulatory annotations Under ldquoSelect Regulatory Annotationsrdquo click the ldquo+rdquo button to choose which TFs to include (or select none to include all binding sites)

Bonus Material

Where to search genomeucsceducgi-binhgGateway

Where to search genomeucsceducgi-binhgGateway

Where to search Main Browser genomeucsceducgi-binhgTracks

Public Hubs

My Data Track Hubs

Where to search genomeucsceducgi-binhgHubConnect

Track search

Track search

Track search

Page 33: Visualizing ENCODE Data in the UCSC Genome Browser · Variant Annotation Integrator 1. Go to the Variant Annotation Integrator • Tools -> V.A.I. 2. Select Variants: • Variants:

Data Integrator

httpgenomeucsceducgi-binhgIntegratorhgsid=43297266

1 of 1 62615 320 PM

Data Integrator ct_SYDHTFBS_4733chrom ct_SYDHTFBS_4733chromStart ct_SYDHTFBS_4733chromEnd ct_SYDHTFBS_4733name ct_SYDHTFBS_4733score wgEncodeGencodeBasicV19name wgEncodeGencodeBasicV19name2chr21 33031473 33032186 608 ENST000004493391 AP0002531 chr21 33031473 33032186 608 ENST000002701426 SOD1 chr21 33031473 33032186 608 ENST000003899954 SOD1 chr21 33031473 33032186 608 ENST000004709441 SOD1

       

Annotating your VCF file

1 Make a VCF custom track 2 Go to the Variant Annotation Integrator 3 Choose your track 4 Add annotations

   

Remotely Hosted Custom Tracks bull Put data file (bigBedbigWigBAMVCF etc)

in internet accessible location bull Must have 1 track info 2 bigDataUrl bull VCF example

track type=vcfTabix name=VCF_Example description=VCF Ex 1 1000 Genomes phase 1interim SNVs bigDataUrl= httphgwdevcseucscedu~paulinepresentationsvcfExamplevcfgz

  

Variant Annotation Integrator13

bull Upload pgSnp or VCF custom track13 bull Associate UCSC annotations with your

uploaded variant calls13 bull Add dbSNP info if dbSNP identifier

found13 bull Select custom track and VAI options13

3713

Variant Annotation Integrator13

Tools Variant Annotation Integrator

Variant Annotation Integrator13 genomeucsceducgi-binhgVai

   

  

Track Data Hubs 13

bull Remotely hosted13 bull Data persistence13 bull File formats 13

bigBED bigWig BAM VCF13 bull Track organization 13

groups supertracks13 bull multiWigs13 bull Assembly hubs13

Track Hubs

My Data Track Hubs

Track Hubs genomeucsceducgi-binhgHubConnect

My Data Track Hubs

My Hubs genomeucsceducgi-binhgHubConnect

My Data Track Hubs

   

Make Your Own Track Hub

You will need bull Data (compressed binary index formats

bigBed bigWig BAM VCF) bull Text files to define properties of the

track hub bull Internet-enabled webftp server bull Assembly Hubs

a twoBit sequence file

Track Hubs genomeucsceducgi-binhgHubConnect

My Data Track Hubs

myHub - directory containing track hub files

hubtxt - a short description of hub properties

genomestxt - list of genome assemblies included

hg19 - directory of data for the hg19 human assembly

Data files BAM bigBed bigWig VCF

An Example Assembly Hub

An Arabidopsis hub13 httpgenome-testcseucscedu

~paulinehubsPlantshubtxt13 13

131313

13

1313

     

Acknowledgements UCSC Genome Browser team

ndash David Haussler ndash co-PI ndash Jim Kent ndash Browser Concept BLAT Team Leader PI ndash Bob Kuhn ndash Associate Director Outreach ndash co-PI ndash Donna Karolchik Ann Zweig ndash Project Management

Engineering QA Docs Support Sys-admins

Angie Hinrichs Katrina Learned Jorge Garcia Pauline Fujita Erich Weiler Kate Rosenbloom

Hiram Clawson Luvina Guruvadoo Gary Moro Steve Heitner Galt Barber

Brian Raney Brian Lee

Max Haeussler Jonathan Caspar Matt Speir

THE GB TEAM

UC Santa Cruz Genomics Institute

Funding Sources

National Human Genome Research Institute (NHGRI)

National Cancer Institute (NCI)

National Institute for Dental and Cranio-Facial Research (NIDCR)

National Institute for Child Health and Human Development (NICHD)

QB3 (UCBerkeley UCSF UCSC)

American Recovery and Reinvestment Act (ARRA) stimulus funds

UC Santa Cruz Genomics Institute

genomeucscedu

THANK YOU

UC Santa Cruz Genomics Institute

   

Exercises 1 Load example BED and VCF tracks via url 2 Look at custom track data by pasting url into a

web browser 3 Annotate the TFBS custom track using the Data

Integrator 4 Annotate the VCF custom track using the Variant

Annotation Integrator

   

     

Exercise 1 Load example BED and VCF tracks via url

1 Go to the Custom tracks menu bull My Data -gt Custom Tracks

2 Input this url httpbitlycustomtracks (note that you must include the rdquohttprdquo part of this url or you will get an error) and click [submit]

3 Click the [Go to genome browser] button 4 Once in the main Browser jump to this position

bull chr2133034804-33037719 5 See if you can drag your 2 custom tracks to the top of

the display

Exercise 2 Exploring your BED and VCF tracks

1 Now that you have 2 custom tracks loaded take a look at the data by pasting that same url into a web browser

2 These custom tracks are actually data copied from some existing tracks see if you can find them turn them on and observe that the original tracks and custom tracks look the same in the browser bull Track 1 (BED format) Group (Regulation) Super

Track (ENC TF Binding) Track (SYDH TFBS) bull Track 2 (VCF format) Group (Variation) Track

(1000G Ph1 Vars) 3 Navigate to this position for best comparison (esp for the

VCF track) chr2133034804-33037719

   

   

Exercise 3 Annotate your BED with the Data Integrator

1 Go to the Data Integrator 2 Once there select

1 Region to annotate chr2133031597-33041570 2 Add data source group (custom tracks) track (SYDHhellip) [click

add]3 Now choose which annotations you want to add by [add]ing more

tracks to the list ndash ex 1 Find the genes that overlap with your regions group (Genes and

Gene Prediction) track (GENCODE V19) view (Genes)subtrack (Basic) [add]

2 Find the SNPs that overlap with your regions group (Variation)track (Common SNPs) [add]

Choose which fields to include in your outputOutput options -gt Choose fields [Done] -gt [get output]

   

   

   

Exercise 4 Annotate your VCF with the

Variant Annotation Integrator

1 Go to the Variant Annotation Integratorbull Tools -gt VAI

2 Select Variants bull Variants ldquoVCF Ex 1helliprdquo

3 Now choose which annotations you want to addbull To determine which gene regions your variants fall into select a

gene track (Select Genes = ldquoBasic Gene Annotation SethellipGENCODErdquo)

bull Add regulatory annotations Under ldquoSelect Regulatory Annotationsrdquo click the ldquo+rdquo button to choose which TFs to include (or select none to include all binding sites)

Bonus Material

Where to search genomeucsceducgi-binhgGateway

Where to search genomeucsceducgi-binhgGateway

Where to search Main Browser genomeucsceducgi-binhgTracks

Public Hubs

My Data Track Hubs

Where to search genomeucsceducgi-binhgHubConnect

Track search

Track search

Track search

Page 34: Visualizing ENCODE Data in the UCSC Genome Browser · Variant Annotation Integrator 1. Go to the Variant Annotation Integrator • Tools -> V.A.I. 2. Select Variants: • Variants:

httpgenomeucsceducgi-binhgIntegratorhgsid=43297266

1 of 1 62615 320 PM

Data Integrator ct_SYDHTFBS_4733chrom ct_SYDHTFBS_4733chromStart ct_SYDHTFBS_4733chromEnd ct_SYDHTFBS_4733name ct_SYDHTFBS_4733score wgEncodeGencodeBasicV19name wgEncodeGencodeBasicV19name2chr21 33031473 33032186 608 ENST000004493391 AP0002531 chr21 33031473 33032186 608 ENST000002701426 SOD1 chr21 33031473 33032186 608 ENST000003899954 SOD1 chr21 33031473 33032186 608 ENST000004709441 SOD1

       

Annotating your VCF file

1 Make a VCF custom track 2 Go to the Variant Annotation Integrator 3 Choose your track 4 Add annotations

   

Remotely Hosted Custom Tracks bull Put data file (bigBedbigWigBAMVCF etc)

in internet accessible location bull Must have 1 track info 2 bigDataUrl bull VCF example

track type=vcfTabix name=VCF_Example description=VCF Ex 1 1000 Genomes phase 1interim SNVs bigDataUrl= httphgwdevcseucscedu~paulinepresentationsvcfExamplevcfgz

  

Variant Annotation Integrator13

bull Upload pgSnp or VCF custom track13 bull Associate UCSC annotations with your

uploaded variant calls13 bull Add dbSNP info if dbSNP identifier

found13 bull Select custom track and VAI options13

3713

Variant Annotation Integrator13

Tools Variant Annotation Integrator

Variant Annotation Integrator13 genomeucsceducgi-binhgVai

   

  

Track Data Hubs 13

bull Remotely hosted13 bull Data persistence13 bull File formats 13

bigBED bigWig BAM VCF13 bull Track organization 13

groups supertracks13 bull multiWigs13 bull Assembly hubs13

Track Hubs

My Data Track Hubs

Track Hubs genomeucsceducgi-binhgHubConnect

My Data Track Hubs

My Hubs genomeucsceducgi-binhgHubConnect

My Data Track Hubs

   

Make Your Own Track Hub

You will need bull Data (compressed binary index formats

bigBed bigWig BAM VCF) bull Text files to define properties of the

track hub bull Internet-enabled webftp server bull Assembly Hubs

a twoBit sequence file

Track Hubs genomeucsceducgi-binhgHubConnect

My Data Track Hubs

myHub - directory containing track hub files

hubtxt - a short description of hub properties

genomestxt - list of genome assemblies included

hg19 - directory of data for the hg19 human assembly

Data files BAM bigBed bigWig VCF

An Example Assembly Hub

An Arabidopsis hub13 httpgenome-testcseucscedu

~paulinehubsPlantshubtxt13 13

131313

13

1313

     

Acknowledgements UCSC Genome Browser team

ndash David Haussler ndash co-PI ndash Jim Kent ndash Browser Concept BLAT Team Leader PI ndash Bob Kuhn ndash Associate Director Outreach ndash co-PI ndash Donna Karolchik Ann Zweig ndash Project Management

Engineering QA Docs Support Sys-admins

Angie Hinrichs Katrina Learned Jorge Garcia Pauline Fujita Erich Weiler Kate Rosenbloom

Hiram Clawson Luvina Guruvadoo Gary Moro Steve Heitner Galt Barber

Brian Raney Brian Lee

Max Haeussler Jonathan Caspar Matt Speir

THE GB TEAM

UC Santa Cruz Genomics Institute

Funding Sources

National Human Genome Research Institute (NHGRI)

National Cancer Institute (NCI)

National Institute for Dental and Cranio-Facial Research (NIDCR)

National Institute for Child Health and Human Development (NICHD)

QB3 (UCBerkeley UCSF UCSC)

American Recovery and Reinvestment Act (ARRA) stimulus funds

UC Santa Cruz Genomics Institute

genomeucscedu

THANK YOU

UC Santa Cruz Genomics Institute

   

Exercises 1 Load example BED and VCF tracks via url 2 Look at custom track data by pasting url into a

web browser 3 Annotate the TFBS custom track using the Data

Integrator 4 Annotate the VCF custom track using the Variant

Annotation Integrator

   

     

Exercise 1 Load example BED and VCF tracks via url

1 Go to the Custom tracks menu bull My Data -gt Custom Tracks

2 Input this url httpbitlycustomtracks (note that you must include the rdquohttprdquo part of this url or you will get an error) and click [submit]

3 Click the [Go to genome browser] button 4 Once in the main Browser jump to this position

bull chr2133034804-33037719 5 See if you can drag your 2 custom tracks to the top of

the display

Exercise 2 Exploring your BED and VCF tracks

1 Now that you have 2 custom tracks loaded take a look at the data by pasting that same url into a web browser

2 These custom tracks are actually data copied from some existing tracks see if you can find them turn them on and observe that the original tracks and custom tracks look the same in the browser bull Track 1 (BED format) Group (Regulation) Super

Track (ENC TF Binding) Track (SYDH TFBS) bull Track 2 (VCF format) Group (Variation) Track

(1000G Ph1 Vars) 3 Navigate to this position for best comparison (esp for the

VCF track) chr2133034804-33037719

   

   

Exercise 3 Annotate your BED with the Data Integrator

1 Go to the Data Integrator 2 Once there select

1 Region to annotate chr2133031597-33041570 2 Add data source group (custom tracks) track (SYDHhellip) [click

add]3 Now choose which annotations you want to add by [add]ing more

tracks to the list ndash ex 1 Find the genes that overlap with your regions group (Genes and

Gene Prediction) track (GENCODE V19) view (Genes)subtrack (Basic) [add]

2 Find the SNPs that overlap with your regions group (Variation)track (Common SNPs) [add]

Choose which fields to include in your outputOutput options -gt Choose fields [Done] -gt [get output]

   

   

   

Exercise 4 Annotate your VCF with the

Variant Annotation Integrator

1 Go to the Variant Annotation Integratorbull Tools -gt VAI

2 Select Variants bull Variants ldquoVCF Ex 1helliprdquo

3 Now choose which annotations you want to addbull To determine which gene regions your variants fall into select a

gene track (Select Genes = ldquoBasic Gene Annotation SethellipGENCODErdquo)

bull Add regulatory annotations Under ldquoSelect Regulatory Annotationsrdquo click the ldquo+rdquo button to choose which TFs to include (or select none to include all binding sites)

Bonus Material

Where to search genomeucsceducgi-binhgGateway

Where to search genomeucsceducgi-binhgGateway

Where to search Main Browser genomeucsceducgi-binhgTracks

Public Hubs

My Data Track Hubs

Where to search genomeucsceducgi-binhgHubConnect

Track search

Track search

Track search

Page 35: Visualizing ENCODE Data in the UCSC Genome Browser · Variant Annotation Integrator 1. Go to the Variant Annotation Integrator • Tools -> V.A.I. 2. Select Variants: • Variants:

       

Annotating your VCF file

1 Make a VCF custom track 2 Go to the Variant Annotation Integrator 3 Choose your track 4 Add annotations

   

Remotely Hosted Custom Tracks bull Put data file (bigBedbigWigBAMVCF etc)

in internet accessible location bull Must have 1 track info 2 bigDataUrl bull VCF example

track type=vcfTabix name=VCF_Example description=VCF Ex 1 1000 Genomes phase 1interim SNVs bigDataUrl= httphgwdevcseucscedu~paulinepresentationsvcfExamplevcfgz

  

Variant Annotation Integrator13

bull Upload pgSnp or VCF custom track13 bull Associate UCSC annotations with your

uploaded variant calls13 bull Add dbSNP info if dbSNP identifier

found13 bull Select custom track and VAI options13

3713

Variant Annotation Integrator13

Tools Variant Annotation Integrator

Variant Annotation Integrator13 genomeucsceducgi-binhgVai

   

  

Track Data Hubs 13

bull Remotely hosted13 bull Data persistence13 bull File formats 13

bigBED bigWig BAM VCF13 bull Track organization 13

groups supertracks13 bull multiWigs13 bull Assembly hubs13

Track Hubs

My Data Track Hubs

Track Hubs genomeucsceducgi-binhgHubConnect

My Data Track Hubs

My Hubs genomeucsceducgi-binhgHubConnect

My Data Track Hubs

   

Make Your Own Track Hub

You will need bull Data (compressed binary index formats

bigBed bigWig BAM VCF) bull Text files to define properties of the

track hub bull Internet-enabled webftp server bull Assembly Hubs

a twoBit sequence file

Track Hubs genomeucsceducgi-binhgHubConnect

My Data Track Hubs

myHub - directory containing track hub files

hubtxt - a short description of hub properties

genomestxt - list of genome assemblies included

hg19 - directory of data for the hg19 human assembly

Data files BAM bigBed bigWig VCF

An Example Assembly Hub

An Arabidopsis hub13 httpgenome-testcseucscedu

~paulinehubsPlantshubtxt13 13

131313

13

1313

     

Acknowledgements UCSC Genome Browser team

ndash David Haussler ndash co-PI ndash Jim Kent ndash Browser Concept BLAT Team Leader PI ndash Bob Kuhn ndash Associate Director Outreach ndash co-PI ndash Donna Karolchik Ann Zweig ndash Project Management

Engineering QA Docs Support Sys-admins

Angie Hinrichs Katrina Learned Jorge Garcia Pauline Fujita Erich Weiler Kate Rosenbloom

Hiram Clawson Luvina Guruvadoo Gary Moro Steve Heitner Galt Barber

Brian Raney Brian Lee

Max Haeussler Jonathan Caspar Matt Speir

THE GB TEAM

UC Santa Cruz Genomics Institute

Funding Sources

National Human Genome Research Institute (NHGRI)

National Cancer Institute (NCI)

National Institute for Dental and Cranio-Facial Research (NIDCR)

National Institute for Child Health and Human Development (NICHD)

QB3 (UCBerkeley UCSF UCSC)

American Recovery and Reinvestment Act (ARRA) stimulus funds

UC Santa Cruz Genomics Institute

genomeucscedu

THANK YOU

UC Santa Cruz Genomics Institute

   

Exercises 1 Load example BED and VCF tracks via url 2 Look at custom track data by pasting url into a

web browser 3 Annotate the TFBS custom track using the Data

Integrator 4 Annotate the VCF custom track using the Variant

Annotation Integrator

   

     

Exercise 1 Load example BED and VCF tracks via url

1 Go to the Custom tracks menu bull My Data -gt Custom Tracks

2 Input this url httpbitlycustomtracks (note that you must include the rdquohttprdquo part of this url or you will get an error) and click [submit]

3 Click the [Go to genome browser] button 4 Once in the main Browser jump to this position

bull chr2133034804-33037719 5 See if you can drag your 2 custom tracks to the top of

the display

Exercise 2 Exploring your BED and VCF tracks

1 Now that you have 2 custom tracks loaded take a look at the data by pasting that same url into a web browser

2 These custom tracks are actually data copied from some existing tracks see if you can find them turn them on and observe that the original tracks and custom tracks look the same in the browser bull Track 1 (BED format) Group (Regulation) Super

Track (ENC TF Binding) Track (SYDH TFBS) bull Track 2 (VCF format) Group (Variation) Track

(1000G Ph1 Vars) 3 Navigate to this position for best comparison (esp for the

VCF track) chr2133034804-33037719

   

   

Exercise 3 Annotate your BED with the Data Integrator

1 Go to the Data Integrator 2 Once there select

1 Region to annotate chr2133031597-33041570 2 Add data source group (custom tracks) track (SYDHhellip) [click

add]3 Now choose which annotations you want to add by [add]ing more

tracks to the list ndash ex 1 Find the genes that overlap with your regions group (Genes and

Gene Prediction) track (GENCODE V19) view (Genes)subtrack (Basic) [add]

2 Find the SNPs that overlap with your regions group (Variation)track (Common SNPs) [add]

Choose which fields to include in your outputOutput options -gt Choose fields [Done] -gt [get output]

   

   

   

Exercise 4 Annotate your VCF with the

Variant Annotation Integrator

1 Go to the Variant Annotation Integratorbull Tools -gt VAI

2 Select Variants bull Variants ldquoVCF Ex 1helliprdquo

3 Now choose which annotations you want to addbull To determine which gene regions your variants fall into select a

gene track (Select Genes = ldquoBasic Gene Annotation SethellipGENCODErdquo)

bull Add regulatory annotations Under ldquoSelect Regulatory Annotationsrdquo click the ldquo+rdquo button to choose which TFs to include (or select none to include all binding sites)

Bonus Material

Where to search genomeucsceducgi-binhgGateway

Where to search genomeucsceducgi-binhgGateway

Where to search Main Browser genomeucsceducgi-binhgTracks

Public Hubs

My Data Track Hubs

Where to search genomeucsceducgi-binhgHubConnect

Track search

Track search

Track search

Page 36: Visualizing ENCODE Data in the UCSC Genome Browser · Variant Annotation Integrator 1. Go to the Variant Annotation Integrator • Tools -> V.A.I. 2. Select Variants: • Variants:

   

Remotely Hosted Custom Tracks bull Put data file (bigBedbigWigBAMVCF etc)

in internet accessible location bull Must have 1 track info 2 bigDataUrl bull VCF example

track type=vcfTabix name=VCF_Example description=VCF Ex 1 1000 Genomes phase 1interim SNVs bigDataUrl= httphgwdevcseucscedu~paulinepresentationsvcfExamplevcfgz

  

Variant Annotation Integrator13

bull Upload pgSnp or VCF custom track13 bull Associate UCSC annotations with your

uploaded variant calls13 bull Add dbSNP info if dbSNP identifier

found13 bull Select custom track and VAI options13

3713

Variant Annotation Integrator13

Tools Variant Annotation Integrator

Variant Annotation Integrator13 genomeucsceducgi-binhgVai

   

  

Track Data Hubs 13

bull Remotely hosted13 bull Data persistence13 bull File formats 13

bigBED bigWig BAM VCF13 bull Track organization 13

groups supertracks13 bull multiWigs13 bull Assembly hubs13

Track Hubs

My Data Track Hubs

Track Hubs genomeucsceducgi-binhgHubConnect

My Data Track Hubs

My Hubs genomeucsceducgi-binhgHubConnect

My Data Track Hubs

   

Make Your Own Track Hub

You will need bull Data (compressed binary index formats

bigBed bigWig BAM VCF) bull Text files to define properties of the

track hub bull Internet-enabled webftp server bull Assembly Hubs

a twoBit sequence file

Track Hubs genomeucsceducgi-binhgHubConnect

My Data Track Hubs

myHub - directory containing track hub files

hubtxt - a short description of hub properties

genomestxt - list of genome assemblies included

hg19 - directory of data for the hg19 human assembly

Data files BAM bigBed bigWig VCF

An Example Assembly Hub

An Arabidopsis hub13 httpgenome-testcseucscedu

~paulinehubsPlantshubtxt13 13

131313

13

1313

     

Acknowledgements UCSC Genome Browser team

ndash David Haussler ndash co-PI ndash Jim Kent ndash Browser Concept BLAT Team Leader PI ndash Bob Kuhn ndash Associate Director Outreach ndash co-PI ndash Donna Karolchik Ann Zweig ndash Project Management

Engineering QA Docs Support Sys-admins

Angie Hinrichs Katrina Learned Jorge Garcia Pauline Fujita Erich Weiler Kate Rosenbloom

Hiram Clawson Luvina Guruvadoo Gary Moro Steve Heitner Galt Barber

Brian Raney Brian Lee

Max Haeussler Jonathan Caspar Matt Speir

THE GB TEAM

UC Santa Cruz Genomics Institute

Funding Sources

National Human Genome Research Institute (NHGRI)

National Cancer Institute (NCI)

National Institute for Dental and Cranio-Facial Research (NIDCR)

National Institute for Child Health and Human Development (NICHD)

QB3 (UCBerkeley UCSF UCSC)

American Recovery and Reinvestment Act (ARRA) stimulus funds

UC Santa Cruz Genomics Institute

genomeucscedu

THANK YOU

UC Santa Cruz Genomics Institute

   

Exercises 1 Load example BED and VCF tracks via url 2 Look at custom track data by pasting url into a

web browser 3 Annotate the TFBS custom track using the Data

Integrator 4 Annotate the VCF custom track using the Variant

Annotation Integrator

   

     

Exercise 1 Load example BED and VCF tracks via url

1 Go to the Custom tracks menu bull My Data -gt Custom Tracks

2 Input this url httpbitlycustomtracks (note that you must include the rdquohttprdquo part of this url or you will get an error) and click [submit]

3 Click the [Go to genome browser] button 4 Once in the main Browser jump to this position

bull chr2133034804-33037719 5 See if you can drag your 2 custom tracks to the top of

the display

Exercise 2 Exploring your BED and VCF tracks

1 Now that you have 2 custom tracks loaded take a look at the data by pasting that same url into a web browser

2 These custom tracks are actually data copied from some existing tracks see if you can find them turn them on and observe that the original tracks and custom tracks look the same in the browser bull Track 1 (BED format) Group (Regulation) Super

Track (ENC TF Binding) Track (SYDH TFBS) bull Track 2 (VCF format) Group (Variation) Track

(1000G Ph1 Vars) 3 Navigate to this position for best comparison (esp for the

VCF track) chr2133034804-33037719

   

   

Exercise 3 Annotate your BED with the Data Integrator

1 Go to the Data Integrator 2 Once there select

1 Region to annotate chr2133031597-33041570 2 Add data source group (custom tracks) track (SYDHhellip) [click

add]3 Now choose which annotations you want to add by [add]ing more

tracks to the list ndash ex 1 Find the genes that overlap with your regions group (Genes and

Gene Prediction) track (GENCODE V19) view (Genes)subtrack (Basic) [add]

2 Find the SNPs that overlap with your regions group (Variation)track (Common SNPs) [add]

Choose which fields to include in your outputOutput options -gt Choose fields [Done] -gt [get output]

   

   

   

Exercise 4 Annotate your VCF with the

Variant Annotation Integrator

1 Go to the Variant Annotation Integratorbull Tools -gt VAI

2 Select Variants bull Variants ldquoVCF Ex 1helliprdquo

3 Now choose which annotations you want to addbull To determine which gene regions your variants fall into select a

gene track (Select Genes = ldquoBasic Gene Annotation SethellipGENCODErdquo)

bull Add regulatory annotations Under ldquoSelect Regulatory Annotationsrdquo click the ldquo+rdquo button to choose which TFs to include (or select none to include all binding sites)

Bonus Material

Where to search genomeucsceducgi-binhgGateway

Where to search genomeucsceducgi-binhgGateway

Where to search Main Browser genomeucsceducgi-binhgTracks

Public Hubs

My Data Track Hubs

Where to search genomeucsceducgi-binhgHubConnect

Track search

Track search

Track search

Page 37: Visualizing ENCODE Data in the UCSC Genome Browser · Variant Annotation Integrator 1. Go to the Variant Annotation Integrator • Tools -> V.A.I. 2. Select Variants: • Variants:

  

Variant Annotation Integrator13

bull Upload pgSnp or VCF custom track13 bull Associate UCSC annotations with your

uploaded variant calls13 bull Add dbSNP info if dbSNP identifier

found13 bull Select custom track and VAI options13

3713

Variant Annotation Integrator13

Tools Variant Annotation Integrator

Variant Annotation Integrator13 genomeucsceducgi-binhgVai

   

  

Track Data Hubs 13

bull Remotely hosted13 bull Data persistence13 bull File formats 13

bigBED bigWig BAM VCF13 bull Track organization 13

groups supertracks13 bull multiWigs13 bull Assembly hubs13

Track Hubs

My Data Track Hubs

Track Hubs genomeucsceducgi-binhgHubConnect

My Data Track Hubs

My Hubs genomeucsceducgi-binhgHubConnect

My Data Track Hubs

   

Make Your Own Track Hub

You will need bull Data (compressed binary index formats

bigBed bigWig BAM VCF) bull Text files to define properties of the

track hub bull Internet-enabled webftp server bull Assembly Hubs

a twoBit sequence file

Track Hubs genomeucsceducgi-binhgHubConnect

My Data Track Hubs

myHub - directory containing track hub files

hubtxt - a short description of hub properties

genomestxt - list of genome assemblies included

hg19 - directory of data for the hg19 human assembly

Data files BAM bigBed bigWig VCF

An Example Assembly Hub

An Arabidopsis hub13 httpgenome-testcseucscedu

~paulinehubsPlantshubtxt13 13

131313

13

1313

     

Acknowledgements UCSC Genome Browser team

ndash David Haussler ndash co-PI ndash Jim Kent ndash Browser Concept BLAT Team Leader PI ndash Bob Kuhn ndash Associate Director Outreach ndash co-PI ndash Donna Karolchik Ann Zweig ndash Project Management

Engineering QA Docs Support Sys-admins

Angie Hinrichs Katrina Learned Jorge Garcia Pauline Fujita Erich Weiler Kate Rosenbloom

Hiram Clawson Luvina Guruvadoo Gary Moro Steve Heitner Galt Barber

Brian Raney Brian Lee

Max Haeussler Jonathan Caspar Matt Speir

THE GB TEAM

UC Santa Cruz Genomics Institute

Funding Sources

National Human Genome Research Institute (NHGRI)

National Cancer Institute (NCI)

National Institute for Dental and Cranio-Facial Research (NIDCR)

National Institute for Child Health and Human Development (NICHD)

QB3 (UCBerkeley UCSF UCSC)

American Recovery and Reinvestment Act (ARRA) stimulus funds

UC Santa Cruz Genomics Institute

genomeucscedu

THANK YOU

UC Santa Cruz Genomics Institute

   

Exercises 1 Load example BED and VCF tracks via url 2 Look at custom track data by pasting url into a

web browser 3 Annotate the TFBS custom track using the Data

Integrator 4 Annotate the VCF custom track using the Variant

Annotation Integrator

   

     

Exercise 1 Load example BED and VCF tracks via url

1 Go to the Custom tracks menu bull My Data -gt Custom Tracks

2 Input this url httpbitlycustomtracks (note that you must include the rdquohttprdquo part of this url or you will get an error) and click [submit]

3 Click the [Go to genome browser] button 4 Once in the main Browser jump to this position

bull chr2133034804-33037719 5 See if you can drag your 2 custom tracks to the top of

the display

Exercise 2 Exploring your BED and VCF tracks

1 Now that you have 2 custom tracks loaded take a look at the data by pasting that same url into a web browser

2 These custom tracks are actually data copied from some existing tracks see if you can find them turn them on and observe that the original tracks and custom tracks look the same in the browser bull Track 1 (BED format) Group (Regulation) Super

Track (ENC TF Binding) Track (SYDH TFBS) bull Track 2 (VCF format) Group (Variation) Track

(1000G Ph1 Vars) 3 Navigate to this position for best comparison (esp for the

VCF track) chr2133034804-33037719

   

   

Exercise 3 Annotate your BED with the Data Integrator

1 Go to the Data Integrator 2 Once there select

1 Region to annotate chr2133031597-33041570 2 Add data source group (custom tracks) track (SYDHhellip) [click

add]3 Now choose which annotations you want to add by [add]ing more

tracks to the list ndash ex 1 Find the genes that overlap with your regions group (Genes and

Gene Prediction) track (GENCODE V19) view (Genes)subtrack (Basic) [add]

2 Find the SNPs that overlap with your regions group (Variation)track (Common SNPs) [add]

Choose which fields to include in your outputOutput options -gt Choose fields [Done] -gt [get output]

   

   

   

Exercise 4 Annotate your VCF with the

Variant Annotation Integrator

1 Go to the Variant Annotation Integratorbull Tools -gt VAI

2 Select Variants bull Variants ldquoVCF Ex 1helliprdquo

3 Now choose which annotations you want to addbull To determine which gene regions your variants fall into select a

gene track (Select Genes = ldquoBasic Gene Annotation SethellipGENCODErdquo)

bull Add regulatory annotations Under ldquoSelect Regulatory Annotationsrdquo click the ldquo+rdquo button to choose which TFs to include (or select none to include all binding sites)

Bonus Material

Where to search genomeucsceducgi-binhgGateway

Where to search genomeucsceducgi-binhgGateway

Where to search Main Browser genomeucsceducgi-binhgTracks

Public Hubs

My Data Track Hubs

Where to search genomeucsceducgi-binhgHubConnect

Track search

Track search

Track search

Page 38: Visualizing ENCODE Data in the UCSC Genome Browser · Variant Annotation Integrator 1. Go to the Variant Annotation Integrator • Tools -> V.A.I. 2. Select Variants: • Variants:

Variant Annotation Integrator13

Tools Variant Annotation Integrator

Variant Annotation Integrator13 genomeucsceducgi-binhgVai

   

  

Track Data Hubs 13

bull Remotely hosted13 bull Data persistence13 bull File formats 13

bigBED bigWig BAM VCF13 bull Track organization 13

groups supertracks13 bull multiWigs13 bull Assembly hubs13

Track Hubs

My Data Track Hubs

Track Hubs genomeucsceducgi-binhgHubConnect

My Data Track Hubs

My Hubs genomeucsceducgi-binhgHubConnect

My Data Track Hubs

   

Make Your Own Track Hub

You will need bull Data (compressed binary index formats

bigBed bigWig BAM VCF) bull Text files to define properties of the

track hub bull Internet-enabled webftp server bull Assembly Hubs

a twoBit sequence file

Track Hubs genomeucsceducgi-binhgHubConnect

My Data Track Hubs

myHub - directory containing track hub files

hubtxt - a short description of hub properties

genomestxt - list of genome assemblies included

hg19 - directory of data for the hg19 human assembly

Data files BAM bigBed bigWig VCF

An Example Assembly Hub

An Arabidopsis hub13 httpgenome-testcseucscedu

~paulinehubsPlantshubtxt13 13

131313

13

1313

     

Acknowledgements UCSC Genome Browser team

ndash David Haussler ndash co-PI ndash Jim Kent ndash Browser Concept BLAT Team Leader PI ndash Bob Kuhn ndash Associate Director Outreach ndash co-PI ndash Donna Karolchik Ann Zweig ndash Project Management

Engineering QA Docs Support Sys-admins

Angie Hinrichs Katrina Learned Jorge Garcia Pauline Fujita Erich Weiler Kate Rosenbloom

Hiram Clawson Luvina Guruvadoo Gary Moro Steve Heitner Galt Barber

Brian Raney Brian Lee

Max Haeussler Jonathan Caspar Matt Speir

THE GB TEAM

UC Santa Cruz Genomics Institute

Funding Sources

National Human Genome Research Institute (NHGRI)

National Cancer Institute (NCI)

National Institute for Dental and Cranio-Facial Research (NIDCR)

National Institute for Child Health and Human Development (NICHD)

QB3 (UCBerkeley UCSF UCSC)

American Recovery and Reinvestment Act (ARRA) stimulus funds

UC Santa Cruz Genomics Institute

genomeucscedu

THANK YOU

UC Santa Cruz Genomics Institute

   

Exercises 1 Load example BED and VCF tracks via url 2 Look at custom track data by pasting url into a

web browser 3 Annotate the TFBS custom track using the Data

Integrator 4 Annotate the VCF custom track using the Variant

Annotation Integrator

   

     

Exercise 1 Load example BED and VCF tracks via url

1 Go to the Custom tracks menu bull My Data -gt Custom Tracks

2 Input this url httpbitlycustomtracks (note that you must include the rdquohttprdquo part of this url or you will get an error) and click [submit]

3 Click the [Go to genome browser] button 4 Once in the main Browser jump to this position

bull chr2133034804-33037719 5 See if you can drag your 2 custom tracks to the top of

the display

Exercise 2 Exploring your BED and VCF tracks

1 Now that you have 2 custom tracks loaded take a look at the data by pasting that same url into a web browser

2 These custom tracks are actually data copied from some existing tracks see if you can find them turn them on and observe that the original tracks and custom tracks look the same in the browser bull Track 1 (BED format) Group (Regulation) Super

Track (ENC TF Binding) Track (SYDH TFBS) bull Track 2 (VCF format) Group (Variation) Track

(1000G Ph1 Vars) 3 Navigate to this position for best comparison (esp for the

VCF track) chr2133034804-33037719

   

   

Exercise 3 Annotate your BED with the Data Integrator

1 Go to the Data Integrator 2 Once there select

1 Region to annotate chr2133031597-33041570 2 Add data source group (custom tracks) track (SYDHhellip) [click

add]3 Now choose which annotations you want to add by [add]ing more

tracks to the list ndash ex 1 Find the genes that overlap with your regions group (Genes and

Gene Prediction) track (GENCODE V19) view (Genes)subtrack (Basic) [add]

2 Find the SNPs that overlap with your regions group (Variation)track (Common SNPs) [add]

Choose which fields to include in your outputOutput options -gt Choose fields [Done] -gt [get output]

   

   

   

Exercise 4 Annotate your VCF with the

Variant Annotation Integrator

1 Go to the Variant Annotation Integratorbull Tools -gt VAI

2 Select Variants bull Variants ldquoVCF Ex 1helliprdquo

3 Now choose which annotations you want to addbull To determine which gene regions your variants fall into select a

gene track (Select Genes = ldquoBasic Gene Annotation SethellipGENCODErdquo)

bull Add regulatory annotations Under ldquoSelect Regulatory Annotationsrdquo click the ldquo+rdquo button to choose which TFs to include (or select none to include all binding sites)

Bonus Material

Where to search genomeucsceducgi-binhgGateway

Where to search genomeucsceducgi-binhgGateway

Where to search Main Browser genomeucsceducgi-binhgTracks

Public Hubs

My Data Track Hubs

Where to search genomeucsceducgi-binhgHubConnect

Track search

Track search

Track search

Page 39: Visualizing ENCODE Data in the UCSC Genome Browser · Variant Annotation Integrator 1. Go to the Variant Annotation Integrator • Tools -> V.A.I. 2. Select Variants: • Variants:

Variant Annotation Integrator13 genomeucsceducgi-binhgVai

   

  

Track Data Hubs 13

bull Remotely hosted13 bull Data persistence13 bull File formats 13

bigBED bigWig BAM VCF13 bull Track organization 13

groups supertracks13 bull multiWigs13 bull Assembly hubs13

Track Hubs

My Data Track Hubs

Track Hubs genomeucsceducgi-binhgHubConnect

My Data Track Hubs

My Hubs genomeucsceducgi-binhgHubConnect

My Data Track Hubs

   

Make Your Own Track Hub

You will need bull Data (compressed binary index formats

bigBed bigWig BAM VCF) bull Text files to define properties of the

track hub bull Internet-enabled webftp server bull Assembly Hubs

a twoBit sequence file

Track Hubs genomeucsceducgi-binhgHubConnect

My Data Track Hubs

myHub - directory containing track hub files

hubtxt - a short description of hub properties

genomestxt - list of genome assemblies included

hg19 - directory of data for the hg19 human assembly

Data files BAM bigBed bigWig VCF

An Example Assembly Hub

An Arabidopsis hub13 httpgenome-testcseucscedu

~paulinehubsPlantshubtxt13 13

131313

13

1313

     

Acknowledgements UCSC Genome Browser team

ndash David Haussler ndash co-PI ndash Jim Kent ndash Browser Concept BLAT Team Leader PI ndash Bob Kuhn ndash Associate Director Outreach ndash co-PI ndash Donna Karolchik Ann Zweig ndash Project Management

Engineering QA Docs Support Sys-admins

Angie Hinrichs Katrina Learned Jorge Garcia Pauline Fujita Erich Weiler Kate Rosenbloom

Hiram Clawson Luvina Guruvadoo Gary Moro Steve Heitner Galt Barber

Brian Raney Brian Lee

Max Haeussler Jonathan Caspar Matt Speir

THE GB TEAM

UC Santa Cruz Genomics Institute

Funding Sources

National Human Genome Research Institute (NHGRI)

National Cancer Institute (NCI)

National Institute for Dental and Cranio-Facial Research (NIDCR)

National Institute for Child Health and Human Development (NICHD)

QB3 (UCBerkeley UCSF UCSC)

American Recovery and Reinvestment Act (ARRA) stimulus funds

UC Santa Cruz Genomics Institute

genomeucscedu

THANK YOU

UC Santa Cruz Genomics Institute

   

Exercises 1 Load example BED and VCF tracks via url 2 Look at custom track data by pasting url into a

web browser 3 Annotate the TFBS custom track using the Data

Integrator 4 Annotate the VCF custom track using the Variant

Annotation Integrator

   

     

Exercise 1 Load example BED and VCF tracks via url

1 Go to the Custom tracks menu bull My Data -gt Custom Tracks

2 Input this url httpbitlycustomtracks (note that you must include the rdquohttprdquo part of this url or you will get an error) and click [submit]

3 Click the [Go to genome browser] button 4 Once in the main Browser jump to this position

bull chr2133034804-33037719 5 See if you can drag your 2 custom tracks to the top of

the display

Exercise 2 Exploring your BED and VCF tracks

1 Now that you have 2 custom tracks loaded take a look at the data by pasting that same url into a web browser

2 These custom tracks are actually data copied from some existing tracks see if you can find them turn them on and observe that the original tracks and custom tracks look the same in the browser bull Track 1 (BED format) Group (Regulation) Super

Track (ENC TF Binding) Track (SYDH TFBS) bull Track 2 (VCF format) Group (Variation) Track

(1000G Ph1 Vars) 3 Navigate to this position for best comparison (esp for the

VCF track) chr2133034804-33037719

   

   

Exercise 3 Annotate your BED with the Data Integrator

1 Go to the Data Integrator 2 Once there select

1 Region to annotate chr2133031597-33041570 2 Add data source group (custom tracks) track (SYDHhellip) [click

add]3 Now choose which annotations you want to add by [add]ing more

tracks to the list ndash ex 1 Find the genes that overlap with your regions group (Genes and

Gene Prediction) track (GENCODE V19) view (Genes)subtrack (Basic) [add]

2 Find the SNPs that overlap with your regions group (Variation)track (Common SNPs) [add]

Choose which fields to include in your outputOutput options -gt Choose fields [Done] -gt [get output]

   

   

   

Exercise 4 Annotate your VCF with the

Variant Annotation Integrator

1 Go to the Variant Annotation Integratorbull Tools -gt VAI

2 Select Variants bull Variants ldquoVCF Ex 1helliprdquo

3 Now choose which annotations you want to addbull To determine which gene regions your variants fall into select a

gene track (Select Genes = ldquoBasic Gene Annotation SethellipGENCODErdquo)

bull Add regulatory annotations Under ldquoSelect Regulatory Annotationsrdquo click the ldquo+rdquo button to choose which TFs to include (or select none to include all binding sites)

Bonus Material

Where to search genomeucsceducgi-binhgGateway

Where to search genomeucsceducgi-binhgGateway

Where to search Main Browser genomeucsceducgi-binhgTracks

Public Hubs

My Data Track Hubs

Where to search genomeucsceducgi-binhgHubConnect

Track search

Track search

Track search

Page 40: Visualizing ENCODE Data in the UCSC Genome Browser · Variant Annotation Integrator 1. Go to the Variant Annotation Integrator • Tools -> V.A.I. 2. Select Variants: • Variants:

   

  

Track Data Hubs 13

bull Remotely hosted13 bull Data persistence13 bull File formats 13

bigBED bigWig BAM VCF13 bull Track organization 13

groups supertracks13 bull multiWigs13 bull Assembly hubs13

Track Hubs

My Data Track Hubs

Track Hubs genomeucsceducgi-binhgHubConnect

My Data Track Hubs

My Hubs genomeucsceducgi-binhgHubConnect

My Data Track Hubs

   

Make Your Own Track Hub

You will need bull Data (compressed binary index formats

bigBed bigWig BAM VCF) bull Text files to define properties of the

track hub bull Internet-enabled webftp server bull Assembly Hubs

a twoBit sequence file

Track Hubs genomeucsceducgi-binhgHubConnect

My Data Track Hubs

myHub - directory containing track hub files

hubtxt - a short description of hub properties

genomestxt - list of genome assemblies included

hg19 - directory of data for the hg19 human assembly

Data files BAM bigBed bigWig VCF

An Example Assembly Hub

An Arabidopsis hub13 httpgenome-testcseucscedu

~paulinehubsPlantshubtxt13 13

131313

13

1313

     

Acknowledgements UCSC Genome Browser team

ndash David Haussler ndash co-PI ndash Jim Kent ndash Browser Concept BLAT Team Leader PI ndash Bob Kuhn ndash Associate Director Outreach ndash co-PI ndash Donna Karolchik Ann Zweig ndash Project Management

Engineering QA Docs Support Sys-admins

Angie Hinrichs Katrina Learned Jorge Garcia Pauline Fujita Erich Weiler Kate Rosenbloom

Hiram Clawson Luvina Guruvadoo Gary Moro Steve Heitner Galt Barber

Brian Raney Brian Lee

Max Haeussler Jonathan Caspar Matt Speir

THE GB TEAM

UC Santa Cruz Genomics Institute

Funding Sources

National Human Genome Research Institute (NHGRI)

National Cancer Institute (NCI)

National Institute for Dental and Cranio-Facial Research (NIDCR)

National Institute for Child Health and Human Development (NICHD)

QB3 (UCBerkeley UCSF UCSC)

American Recovery and Reinvestment Act (ARRA) stimulus funds

UC Santa Cruz Genomics Institute

genomeucscedu

THANK YOU

UC Santa Cruz Genomics Institute

   

Exercises 1 Load example BED and VCF tracks via url 2 Look at custom track data by pasting url into a

web browser 3 Annotate the TFBS custom track using the Data

Integrator 4 Annotate the VCF custom track using the Variant

Annotation Integrator

   

     

Exercise 1 Load example BED and VCF tracks via url

1 Go to the Custom tracks menu bull My Data -gt Custom Tracks

2 Input this url httpbitlycustomtracks (note that you must include the rdquohttprdquo part of this url or you will get an error) and click [submit]

3 Click the [Go to genome browser] button 4 Once in the main Browser jump to this position

bull chr2133034804-33037719 5 See if you can drag your 2 custom tracks to the top of

the display

Exercise 2 Exploring your BED and VCF tracks

1 Now that you have 2 custom tracks loaded take a look at the data by pasting that same url into a web browser

2 These custom tracks are actually data copied from some existing tracks see if you can find them turn them on and observe that the original tracks and custom tracks look the same in the browser bull Track 1 (BED format) Group (Regulation) Super

Track (ENC TF Binding) Track (SYDH TFBS) bull Track 2 (VCF format) Group (Variation) Track

(1000G Ph1 Vars) 3 Navigate to this position for best comparison (esp for the

VCF track) chr2133034804-33037719

   

   

Exercise 3 Annotate your BED with the Data Integrator

1 Go to the Data Integrator 2 Once there select

1 Region to annotate chr2133031597-33041570 2 Add data source group (custom tracks) track (SYDHhellip) [click

add]3 Now choose which annotations you want to add by [add]ing more

tracks to the list ndash ex 1 Find the genes that overlap with your regions group (Genes and

Gene Prediction) track (GENCODE V19) view (Genes)subtrack (Basic) [add]

2 Find the SNPs that overlap with your regions group (Variation)track (Common SNPs) [add]

Choose which fields to include in your outputOutput options -gt Choose fields [Done] -gt [get output]

   

   

   

Exercise 4 Annotate your VCF with the

Variant Annotation Integrator

1 Go to the Variant Annotation Integratorbull Tools -gt VAI

2 Select Variants bull Variants ldquoVCF Ex 1helliprdquo

3 Now choose which annotations you want to addbull To determine which gene regions your variants fall into select a

gene track (Select Genes = ldquoBasic Gene Annotation SethellipGENCODErdquo)

bull Add regulatory annotations Under ldquoSelect Regulatory Annotationsrdquo click the ldquo+rdquo button to choose which TFs to include (or select none to include all binding sites)

Bonus Material

Where to search genomeucsceducgi-binhgGateway

Where to search genomeucsceducgi-binhgGateway

Where to search Main Browser genomeucsceducgi-binhgTracks

Public Hubs

My Data Track Hubs

Where to search genomeucsceducgi-binhgHubConnect

Track search

Track search

Track search

Page 41: Visualizing ENCODE Data in the UCSC Genome Browser · Variant Annotation Integrator 1. Go to the Variant Annotation Integrator • Tools -> V.A.I. 2. Select Variants: • Variants:

Track Hubs

My Data Track Hubs

Track Hubs genomeucsceducgi-binhgHubConnect

My Data Track Hubs

My Hubs genomeucsceducgi-binhgHubConnect

My Data Track Hubs

   

Make Your Own Track Hub

You will need bull Data (compressed binary index formats

bigBed bigWig BAM VCF) bull Text files to define properties of the

track hub bull Internet-enabled webftp server bull Assembly Hubs

a twoBit sequence file

Track Hubs genomeucsceducgi-binhgHubConnect

My Data Track Hubs

myHub - directory containing track hub files

hubtxt - a short description of hub properties

genomestxt - list of genome assemblies included

hg19 - directory of data for the hg19 human assembly

Data files BAM bigBed bigWig VCF

An Example Assembly Hub

An Arabidopsis hub13 httpgenome-testcseucscedu

~paulinehubsPlantshubtxt13 13

131313

13

1313

     

Acknowledgements UCSC Genome Browser team

ndash David Haussler ndash co-PI ndash Jim Kent ndash Browser Concept BLAT Team Leader PI ndash Bob Kuhn ndash Associate Director Outreach ndash co-PI ndash Donna Karolchik Ann Zweig ndash Project Management

Engineering QA Docs Support Sys-admins

Angie Hinrichs Katrina Learned Jorge Garcia Pauline Fujita Erich Weiler Kate Rosenbloom

Hiram Clawson Luvina Guruvadoo Gary Moro Steve Heitner Galt Barber

Brian Raney Brian Lee

Max Haeussler Jonathan Caspar Matt Speir

THE GB TEAM

UC Santa Cruz Genomics Institute

Funding Sources

National Human Genome Research Institute (NHGRI)

National Cancer Institute (NCI)

National Institute for Dental and Cranio-Facial Research (NIDCR)

National Institute for Child Health and Human Development (NICHD)

QB3 (UCBerkeley UCSF UCSC)

American Recovery and Reinvestment Act (ARRA) stimulus funds

UC Santa Cruz Genomics Institute

genomeucscedu

THANK YOU

UC Santa Cruz Genomics Institute

   

Exercises 1 Load example BED and VCF tracks via url 2 Look at custom track data by pasting url into a

web browser 3 Annotate the TFBS custom track using the Data

Integrator 4 Annotate the VCF custom track using the Variant

Annotation Integrator

   

     

Exercise 1 Load example BED and VCF tracks via url

1 Go to the Custom tracks menu bull My Data -gt Custom Tracks

2 Input this url httpbitlycustomtracks (note that you must include the rdquohttprdquo part of this url or you will get an error) and click [submit]

3 Click the [Go to genome browser] button 4 Once in the main Browser jump to this position

bull chr2133034804-33037719 5 See if you can drag your 2 custom tracks to the top of

the display

Exercise 2 Exploring your BED and VCF tracks

1 Now that you have 2 custom tracks loaded take a look at the data by pasting that same url into a web browser

2 These custom tracks are actually data copied from some existing tracks see if you can find them turn them on and observe that the original tracks and custom tracks look the same in the browser bull Track 1 (BED format) Group (Regulation) Super

Track (ENC TF Binding) Track (SYDH TFBS) bull Track 2 (VCF format) Group (Variation) Track

(1000G Ph1 Vars) 3 Navigate to this position for best comparison (esp for the

VCF track) chr2133034804-33037719

   

   

Exercise 3 Annotate your BED with the Data Integrator

1 Go to the Data Integrator 2 Once there select

1 Region to annotate chr2133031597-33041570 2 Add data source group (custom tracks) track (SYDHhellip) [click

add]3 Now choose which annotations you want to add by [add]ing more

tracks to the list ndash ex 1 Find the genes that overlap with your regions group (Genes and

Gene Prediction) track (GENCODE V19) view (Genes)subtrack (Basic) [add]

2 Find the SNPs that overlap with your regions group (Variation)track (Common SNPs) [add]

Choose which fields to include in your outputOutput options -gt Choose fields [Done] -gt [get output]

   

   

   

Exercise 4 Annotate your VCF with the

Variant Annotation Integrator

1 Go to the Variant Annotation Integratorbull Tools -gt VAI

2 Select Variants bull Variants ldquoVCF Ex 1helliprdquo

3 Now choose which annotations you want to addbull To determine which gene regions your variants fall into select a

gene track (Select Genes = ldquoBasic Gene Annotation SethellipGENCODErdquo)

bull Add regulatory annotations Under ldquoSelect Regulatory Annotationsrdquo click the ldquo+rdquo button to choose which TFs to include (or select none to include all binding sites)

Bonus Material

Where to search genomeucsceducgi-binhgGateway

Where to search genomeucsceducgi-binhgGateway

Where to search Main Browser genomeucsceducgi-binhgTracks

Public Hubs

My Data Track Hubs

Where to search genomeucsceducgi-binhgHubConnect

Track search

Track search

Track search

Page 42: Visualizing ENCODE Data in the UCSC Genome Browser · Variant Annotation Integrator 1. Go to the Variant Annotation Integrator • Tools -> V.A.I. 2. Select Variants: • Variants:

Track Hubs genomeucsceducgi-binhgHubConnect

My Data Track Hubs

My Hubs genomeucsceducgi-binhgHubConnect

My Data Track Hubs

   

Make Your Own Track Hub

You will need bull Data (compressed binary index formats

bigBed bigWig BAM VCF) bull Text files to define properties of the

track hub bull Internet-enabled webftp server bull Assembly Hubs

a twoBit sequence file

Track Hubs genomeucsceducgi-binhgHubConnect

My Data Track Hubs

myHub - directory containing track hub files

hubtxt - a short description of hub properties

genomestxt - list of genome assemblies included

hg19 - directory of data for the hg19 human assembly

Data files BAM bigBed bigWig VCF

An Example Assembly Hub

An Arabidopsis hub13 httpgenome-testcseucscedu

~paulinehubsPlantshubtxt13 13

131313

13

1313

     

Acknowledgements UCSC Genome Browser team

ndash David Haussler ndash co-PI ndash Jim Kent ndash Browser Concept BLAT Team Leader PI ndash Bob Kuhn ndash Associate Director Outreach ndash co-PI ndash Donna Karolchik Ann Zweig ndash Project Management

Engineering QA Docs Support Sys-admins

Angie Hinrichs Katrina Learned Jorge Garcia Pauline Fujita Erich Weiler Kate Rosenbloom

Hiram Clawson Luvina Guruvadoo Gary Moro Steve Heitner Galt Barber

Brian Raney Brian Lee

Max Haeussler Jonathan Caspar Matt Speir

THE GB TEAM

UC Santa Cruz Genomics Institute

Funding Sources

National Human Genome Research Institute (NHGRI)

National Cancer Institute (NCI)

National Institute for Dental and Cranio-Facial Research (NIDCR)

National Institute for Child Health and Human Development (NICHD)

QB3 (UCBerkeley UCSF UCSC)

American Recovery and Reinvestment Act (ARRA) stimulus funds

UC Santa Cruz Genomics Institute

genomeucscedu

THANK YOU

UC Santa Cruz Genomics Institute

   

Exercises 1 Load example BED and VCF tracks via url 2 Look at custom track data by pasting url into a

web browser 3 Annotate the TFBS custom track using the Data

Integrator 4 Annotate the VCF custom track using the Variant

Annotation Integrator

   

     

Exercise 1 Load example BED and VCF tracks via url

1 Go to the Custom tracks menu bull My Data -gt Custom Tracks

2 Input this url httpbitlycustomtracks (note that you must include the rdquohttprdquo part of this url or you will get an error) and click [submit]

3 Click the [Go to genome browser] button 4 Once in the main Browser jump to this position

bull chr2133034804-33037719 5 See if you can drag your 2 custom tracks to the top of

the display

Exercise 2 Exploring your BED and VCF tracks

1 Now that you have 2 custom tracks loaded take a look at the data by pasting that same url into a web browser

2 These custom tracks are actually data copied from some existing tracks see if you can find them turn them on and observe that the original tracks and custom tracks look the same in the browser bull Track 1 (BED format) Group (Regulation) Super

Track (ENC TF Binding) Track (SYDH TFBS) bull Track 2 (VCF format) Group (Variation) Track

(1000G Ph1 Vars) 3 Navigate to this position for best comparison (esp for the

VCF track) chr2133034804-33037719

   

   

Exercise 3 Annotate your BED with the Data Integrator

1 Go to the Data Integrator 2 Once there select

1 Region to annotate chr2133031597-33041570 2 Add data source group (custom tracks) track (SYDHhellip) [click

add]3 Now choose which annotations you want to add by [add]ing more

tracks to the list ndash ex 1 Find the genes that overlap with your regions group (Genes and

Gene Prediction) track (GENCODE V19) view (Genes)subtrack (Basic) [add]

2 Find the SNPs that overlap with your regions group (Variation)track (Common SNPs) [add]

Choose which fields to include in your outputOutput options -gt Choose fields [Done] -gt [get output]

   

   

   

Exercise 4 Annotate your VCF with the

Variant Annotation Integrator

1 Go to the Variant Annotation Integratorbull Tools -gt VAI

2 Select Variants bull Variants ldquoVCF Ex 1helliprdquo

3 Now choose which annotations you want to addbull To determine which gene regions your variants fall into select a

gene track (Select Genes = ldquoBasic Gene Annotation SethellipGENCODErdquo)

bull Add regulatory annotations Under ldquoSelect Regulatory Annotationsrdquo click the ldquo+rdquo button to choose which TFs to include (or select none to include all binding sites)

Bonus Material

Where to search genomeucsceducgi-binhgGateway

Where to search genomeucsceducgi-binhgGateway

Where to search Main Browser genomeucsceducgi-binhgTracks

Public Hubs

My Data Track Hubs

Where to search genomeucsceducgi-binhgHubConnect

Track search

Track search

Track search

Page 43: Visualizing ENCODE Data in the UCSC Genome Browser · Variant Annotation Integrator 1. Go to the Variant Annotation Integrator • Tools -> V.A.I. 2. Select Variants: • Variants:

My Hubs genomeucsceducgi-binhgHubConnect

My Data Track Hubs

   

Make Your Own Track Hub

You will need bull Data (compressed binary index formats

bigBed bigWig BAM VCF) bull Text files to define properties of the

track hub bull Internet-enabled webftp server bull Assembly Hubs

a twoBit sequence file

Track Hubs genomeucsceducgi-binhgHubConnect

My Data Track Hubs

myHub - directory containing track hub files

hubtxt - a short description of hub properties

genomestxt - list of genome assemblies included

hg19 - directory of data for the hg19 human assembly

Data files BAM bigBed bigWig VCF

An Example Assembly Hub

An Arabidopsis hub13 httpgenome-testcseucscedu

~paulinehubsPlantshubtxt13 13

131313

13

1313

     

Acknowledgements UCSC Genome Browser team

ndash David Haussler ndash co-PI ndash Jim Kent ndash Browser Concept BLAT Team Leader PI ndash Bob Kuhn ndash Associate Director Outreach ndash co-PI ndash Donna Karolchik Ann Zweig ndash Project Management

Engineering QA Docs Support Sys-admins

Angie Hinrichs Katrina Learned Jorge Garcia Pauline Fujita Erich Weiler Kate Rosenbloom

Hiram Clawson Luvina Guruvadoo Gary Moro Steve Heitner Galt Barber

Brian Raney Brian Lee

Max Haeussler Jonathan Caspar Matt Speir

THE GB TEAM

UC Santa Cruz Genomics Institute

Funding Sources

National Human Genome Research Institute (NHGRI)

National Cancer Institute (NCI)

National Institute for Dental and Cranio-Facial Research (NIDCR)

National Institute for Child Health and Human Development (NICHD)

QB3 (UCBerkeley UCSF UCSC)

American Recovery and Reinvestment Act (ARRA) stimulus funds

UC Santa Cruz Genomics Institute

genomeucscedu

THANK YOU

UC Santa Cruz Genomics Institute

   

Exercises 1 Load example BED and VCF tracks via url 2 Look at custom track data by pasting url into a

web browser 3 Annotate the TFBS custom track using the Data

Integrator 4 Annotate the VCF custom track using the Variant

Annotation Integrator

   

     

Exercise 1 Load example BED and VCF tracks via url

1 Go to the Custom tracks menu bull My Data -gt Custom Tracks

2 Input this url httpbitlycustomtracks (note that you must include the rdquohttprdquo part of this url or you will get an error) and click [submit]

3 Click the [Go to genome browser] button 4 Once in the main Browser jump to this position

bull chr2133034804-33037719 5 See if you can drag your 2 custom tracks to the top of

the display

Exercise 2 Exploring your BED and VCF tracks

1 Now that you have 2 custom tracks loaded take a look at the data by pasting that same url into a web browser

2 These custom tracks are actually data copied from some existing tracks see if you can find them turn them on and observe that the original tracks and custom tracks look the same in the browser bull Track 1 (BED format) Group (Regulation) Super

Track (ENC TF Binding) Track (SYDH TFBS) bull Track 2 (VCF format) Group (Variation) Track

(1000G Ph1 Vars) 3 Navigate to this position for best comparison (esp for the

VCF track) chr2133034804-33037719

   

   

Exercise 3 Annotate your BED with the Data Integrator

1 Go to the Data Integrator 2 Once there select

1 Region to annotate chr2133031597-33041570 2 Add data source group (custom tracks) track (SYDHhellip) [click

add]3 Now choose which annotations you want to add by [add]ing more

tracks to the list ndash ex 1 Find the genes that overlap with your regions group (Genes and

Gene Prediction) track (GENCODE V19) view (Genes)subtrack (Basic) [add]

2 Find the SNPs that overlap with your regions group (Variation)track (Common SNPs) [add]

Choose which fields to include in your outputOutput options -gt Choose fields [Done] -gt [get output]

   

   

   

Exercise 4 Annotate your VCF with the

Variant Annotation Integrator

1 Go to the Variant Annotation Integratorbull Tools -gt VAI

2 Select Variants bull Variants ldquoVCF Ex 1helliprdquo

3 Now choose which annotations you want to addbull To determine which gene regions your variants fall into select a

gene track (Select Genes = ldquoBasic Gene Annotation SethellipGENCODErdquo)

bull Add regulatory annotations Under ldquoSelect Regulatory Annotationsrdquo click the ldquo+rdquo button to choose which TFs to include (or select none to include all binding sites)

Bonus Material

Where to search genomeucsceducgi-binhgGateway

Where to search genomeucsceducgi-binhgGateway

Where to search Main Browser genomeucsceducgi-binhgTracks

Public Hubs

My Data Track Hubs

Where to search genomeucsceducgi-binhgHubConnect

Track search

Track search

Track search

Page 44: Visualizing ENCODE Data in the UCSC Genome Browser · Variant Annotation Integrator 1. Go to the Variant Annotation Integrator • Tools -> V.A.I. 2. Select Variants: • Variants:

   

Make Your Own Track Hub

You will need bull Data (compressed binary index formats

bigBed bigWig BAM VCF) bull Text files to define properties of the

track hub bull Internet-enabled webftp server bull Assembly Hubs

a twoBit sequence file

Track Hubs genomeucsceducgi-binhgHubConnect

My Data Track Hubs

myHub - directory containing track hub files

hubtxt - a short description of hub properties

genomestxt - list of genome assemblies included

hg19 - directory of data for the hg19 human assembly

Data files BAM bigBed bigWig VCF

An Example Assembly Hub

An Arabidopsis hub13 httpgenome-testcseucscedu

~paulinehubsPlantshubtxt13 13

131313

13

1313

     

Acknowledgements UCSC Genome Browser team

ndash David Haussler ndash co-PI ndash Jim Kent ndash Browser Concept BLAT Team Leader PI ndash Bob Kuhn ndash Associate Director Outreach ndash co-PI ndash Donna Karolchik Ann Zweig ndash Project Management

Engineering QA Docs Support Sys-admins

Angie Hinrichs Katrina Learned Jorge Garcia Pauline Fujita Erich Weiler Kate Rosenbloom

Hiram Clawson Luvina Guruvadoo Gary Moro Steve Heitner Galt Barber

Brian Raney Brian Lee

Max Haeussler Jonathan Caspar Matt Speir

THE GB TEAM

UC Santa Cruz Genomics Institute

Funding Sources

National Human Genome Research Institute (NHGRI)

National Cancer Institute (NCI)

National Institute for Dental and Cranio-Facial Research (NIDCR)

National Institute for Child Health and Human Development (NICHD)

QB3 (UCBerkeley UCSF UCSC)

American Recovery and Reinvestment Act (ARRA) stimulus funds

UC Santa Cruz Genomics Institute

genomeucscedu

THANK YOU

UC Santa Cruz Genomics Institute

   

Exercises 1 Load example BED and VCF tracks via url 2 Look at custom track data by pasting url into a

web browser 3 Annotate the TFBS custom track using the Data

Integrator 4 Annotate the VCF custom track using the Variant

Annotation Integrator

   

     

Exercise 1 Load example BED and VCF tracks via url

1 Go to the Custom tracks menu bull My Data -gt Custom Tracks

2 Input this url httpbitlycustomtracks (note that you must include the rdquohttprdquo part of this url or you will get an error) and click [submit]

3 Click the [Go to genome browser] button 4 Once in the main Browser jump to this position

bull chr2133034804-33037719 5 See if you can drag your 2 custom tracks to the top of

the display

Exercise 2 Exploring your BED and VCF tracks

1 Now that you have 2 custom tracks loaded take a look at the data by pasting that same url into a web browser

2 These custom tracks are actually data copied from some existing tracks see if you can find them turn them on and observe that the original tracks and custom tracks look the same in the browser bull Track 1 (BED format) Group (Regulation) Super

Track (ENC TF Binding) Track (SYDH TFBS) bull Track 2 (VCF format) Group (Variation) Track

(1000G Ph1 Vars) 3 Navigate to this position for best comparison (esp for the

VCF track) chr2133034804-33037719

   

   

Exercise 3 Annotate your BED with the Data Integrator

1 Go to the Data Integrator 2 Once there select

1 Region to annotate chr2133031597-33041570 2 Add data source group (custom tracks) track (SYDHhellip) [click

add]3 Now choose which annotations you want to add by [add]ing more

tracks to the list ndash ex 1 Find the genes that overlap with your regions group (Genes and

Gene Prediction) track (GENCODE V19) view (Genes)subtrack (Basic) [add]

2 Find the SNPs that overlap with your regions group (Variation)track (Common SNPs) [add]

Choose which fields to include in your outputOutput options -gt Choose fields [Done] -gt [get output]

   

   

   

Exercise 4 Annotate your VCF with the

Variant Annotation Integrator

1 Go to the Variant Annotation Integratorbull Tools -gt VAI

2 Select Variants bull Variants ldquoVCF Ex 1helliprdquo

3 Now choose which annotations you want to addbull To determine which gene regions your variants fall into select a

gene track (Select Genes = ldquoBasic Gene Annotation SethellipGENCODErdquo)

bull Add regulatory annotations Under ldquoSelect Regulatory Annotationsrdquo click the ldquo+rdquo button to choose which TFs to include (or select none to include all binding sites)

Bonus Material

Where to search genomeucsceducgi-binhgGateway

Where to search genomeucsceducgi-binhgGateway

Where to search Main Browser genomeucsceducgi-binhgTracks

Public Hubs

My Data Track Hubs

Where to search genomeucsceducgi-binhgHubConnect

Track search

Track search

Track search

Page 45: Visualizing ENCODE Data in the UCSC Genome Browser · Variant Annotation Integrator 1. Go to the Variant Annotation Integrator • Tools -> V.A.I. 2. Select Variants: • Variants:

Track Hubs genomeucsceducgi-binhgHubConnect

My Data Track Hubs

myHub - directory containing track hub files

hubtxt - a short description of hub properties

genomestxt - list of genome assemblies included

hg19 - directory of data for the hg19 human assembly

Data files BAM bigBed bigWig VCF

An Example Assembly Hub

An Arabidopsis hub13 httpgenome-testcseucscedu

~paulinehubsPlantshubtxt13 13

131313

13

1313

     

Acknowledgements UCSC Genome Browser team

ndash David Haussler ndash co-PI ndash Jim Kent ndash Browser Concept BLAT Team Leader PI ndash Bob Kuhn ndash Associate Director Outreach ndash co-PI ndash Donna Karolchik Ann Zweig ndash Project Management

Engineering QA Docs Support Sys-admins

Angie Hinrichs Katrina Learned Jorge Garcia Pauline Fujita Erich Weiler Kate Rosenbloom

Hiram Clawson Luvina Guruvadoo Gary Moro Steve Heitner Galt Barber

Brian Raney Brian Lee

Max Haeussler Jonathan Caspar Matt Speir

THE GB TEAM

UC Santa Cruz Genomics Institute

Funding Sources

National Human Genome Research Institute (NHGRI)

National Cancer Institute (NCI)

National Institute for Dental and Cranio-Facial Research (NIDCR)

National Institute for Child Health and Human Development (NICHD)

QB3 (UCBerkeley UCSF UCSC)

American Recovery and Reinvestment Act (ARRA) stimulus funds

UC Santa Cruz Genomics Institute

genomeucscedu

THANK YOU

UC Santa Cruz Genomics Institute

   

Exercises 1 Load example BED and VCF tracks via url 2 Look at custom track data by pasting url into a

web browser 3 Annotate the TFBS custom track using the Data

Integrator 4 Annotate the VCF custom track using the Variant

Annotation Integrator

   

     

Exercise 1 Load example BED and VCF tracks via url

1 Go to the Custom tracks menu bull My Data -gt Custom Tracks

2 Input this url httpbitlycustomtracks (note that you must include the rdquohttprdquo part of this url or you will get an error) and click [submit]

3 Click the [Go to genome browser] button 4 Once in the main Browser jump to this position

bull chr2133034804-33037719 5 See if you can drag your 2 custom tracks to the top of

the display

Exercise 2 Exploring your BED and VCF tracks

1 Now that you have 2 custom tracks loaded take a look at the data by pasting that same url into a web browser

2 These custom tracks are actually data copied from some existing tracks see if you can find them turn them on and observe that the original tracks and custom tracks look the same in the browser bull Track 1 (BED format) Group (Regulation) Super

Track (ENC TF Binding) Track (SYDH TFBS) bull Track 2 (VCF format) Group (Variation) Track

(1000G Ph1 Vars) 3 Navigate to this position for best comparison (esp for the

VCF track) chr2133034804-33037719

   

   

Exercise 3 Annotate your BED with the Data Integrator

1 Go to the Data Integrator 2 Once there select

1 Region to annotate chr2133031597-33041570 2 Add data source group (custom tracks) track (SYDHhellip) [click

add]3 Now choose which annotations you want to add by [add]ing more

tracks to the list ndash ex 1 Find the genes that overlap with your regions group (Genes and

Gene Prediction) track (GENCODE V19) view (Genes)subtrack (Basic) [add]

2 Find the SNPs that overlap with your regions group (Variation)track (Common SNPs) [add]

Choose which fields to include in your outputOutput options -gt Choose fields [Done] -gt [get output]

   

   

   

Exercise 4 Annotate your VCF with the

Variant Annotation Integrator

1 Go to the Variant Annotation Integratorbull Tools -gt VAI

2 Select Variants bull Variants ldquoVCF Ex 1helliprdquo

3 Now choose which annotations you want to addbull To determine which gene regions your variants fall into select a

gene track (Select Genes = ldquoBasic Gene Annotation SethellipGENCODErdquo)

bull Add regulatory annotations Under ldquoSelect Regulatory Annotationsrdquo click the ldquo+rdquo button to choose which TFs to include (or select none to include all binding sites)

Bonus Material

Where to search genomeucsceducgi-binhgGateway

Where to search genomeucsceducgi-binhgGateway

Where to search Main Browser genomeucsceducgi-binhgTracks

Public Hubs

My Data Track Hubs

Where to search genomeucsceducgi-binhgHubConnect

Track search

Track search

Track search

Page 46: Visualizing ENCODE Data in the UCSC Genome Browser · Variant Annotation Integrator 1. Go to the Variant Annotation Integrator • Tools -> V.A.I. 2. Select Variants: • Variants:

An Example Assembly Hub

An Arabidopsis hub13 httpgenome-testcseucscedu

~paulinehubsPlantshubtxt13 13

131313

13

1313

     

Acknowledgements UCSC Genome Browser team

ndash David Haussler ndash co-PI ndash Jim Kent ndash Browser Concept BLAT Team Leader PI ndash Bob Kuhn ndash Associate Director Outreach ndash co-PI ndash Donna Karolchik Ann Zweig ndash Project Management

Engineering QA Docs Support Sys-admins

Angie Hinrichs Katrina Learned Jorge Garcia Pauline Fujita Erich Weiler Kate Rosenbloom

Hiram Clawson Luvina Guruvadoo Gary Moro Steve Heitner Galt Barber

Brian Raney Brian Lee

Max Haeussler Jonathan Caspar Matt Speir

THE GB TEAM

UC Santa Cruz Genomics Institute

Funding Sources

National Human Genome Research Institute (NHGRI)

National Cancer Institute (NCI)

National Institute for Dental and Cranio-Facial Research (NIDCR)

National Institute for Child Health and Human Development (NICHD)

QB3 (UCBerkeley UCSF UCSC)

American Recovery and Reinvestment Act (ARRA) stimulus funds

UC Santa Cruz Genomics Institute

genomeucscedu

THANK YOU

UC Santa Cruz Genomics Institute

   

Exercises 1 Load example BED and VCF tracks via url 2 Look at custom track data by pasting url into a

web browser 3 Annotate the TFBS custom track using the Data

Integrator 4 Annotate the VCF custom track using the Variant

Annotation Integrator

   

     

Exercise 1 Load example BED and VCF tracks via url

1 Go to the Custom tracks menu bull My Data -gt Custom Tracks

2 Input this url httpbitlycustomtracks (note that you must include the rdquohttprdquo part of this url or you will get an error) and click [submit]

3 Click the [Go to genome browser] button 4 Once in the main Browser jump to this position

bull chr2133034804-33037719 5 See if you can drag your 2 custom tracks to the top of

the display

Exercise 2 Exploring your BED and VCF tracks

1 Now that you have 2 custom tracks loaded take a look at the data by pasting that same url into a web browser

2 These custom tracks are actually data copied from some existing tracks see if you can find them turn them on and observe that the original tracks and custom tracks look the same in the browser bull Track 1 (BED format) Group (Regulation) Super

Track (ENC TF Binding) Track (SYDH TFBS) bull Track 2 (VCF format) Group (Variation) Track

(1000G Ph1 Vars) 3 Navigate to this position for best comparison (esp for the

VCF track) chr2133034804-33037719

   

   

Exercise 3 Annotate your BED with the Data Integrator

1 Go to the Data Integrator 2 Once there select

1 Region to annotate chr2133031597-33041570 2 Add data source group (custom tracks) track (SYDHhellip) [click

add]3 Now choose which annotations you want to add by [add]ing more

tracks to the list ndash ex 1 Find the genes that overlap with your regions group (Genes and

Gene Prediction) track (GENCODE V19) view (Genes)subtrack (Basic) [add]

2 Find the SNPs that overlap with your regions group (Variation)track (Common SNPs) [add]

Choose which fields to include in your outputOutput options -gt Choose fields [Done] -gt [get output]

   

   

   

Exercise 4 Annotate your VCF with the

Variant Annotation Integrator

1 Go to the Variant Annotation Integratorbull Tools -gt VAI

2 Select Variants bull Variants ldquoVCF Ex 1helliprdquo

3 Now choose which annotations you want to addbull To determine which gene regions your variants fall into select a

gene track (Select Genes = ldquoBasic Gene Annotation SethellipGENCODErdquo)

bull Add regulatory annotations Under ldquoSelect Regulatory Annotationsrdquo click the ldquo+rdquo button to choose which TFs to include (or select none to include all binding sites)

Bonus Material

Where to search genomeucsceducgi-binhgGateway

Where to search genomeucsceducgi-binhgGateway

Where to search Main Browser genomeucsceducgi-binhgTracks

Public Hubs

My Data Track Hubs

Where to search genomeucsceducgi-binhgHubConnect

Track search

Track search

Track search

Page 47: Visualizing ENCODE Data in the UCSC Genome Browser · Variant Annotation Integrator 1. Go to the Variant Annotation Integrator • Tools -> V.A.I. 2. Select Variants: • Variants:

     

Acknowledgements UCSC Genome Browser team

ndash David Haussler ndash co-PI ndash Jim Kent ndash Browser Concept BLAT Team Leader PI ndash Bob Kuhn ndash Associate Director Outreach ndash co-PI ndash Donna Karolchik Ann Zweig ndash Project Management

Engineering QA Docs Support Sys-admins

Angie Hinrichs Katrina Learned Jorge Garcia Pauline Fujita Erich Weiler Kate Rosenbloom

Hiram Clawson Luvina Guruvadoo Gary Moro Steve Heitner Galt Barber

Brian Raney Brian Lee

Max Haeussler Jonathan Caspar Matt Speir

THE GB TEAM

UC Santa Cruz Genomics Institute

Funding Sources

National Human Genome Research Institute (NHGRI)

National Cancer Institute (NCI)

National Institute for Dental and Cranio-Facial Research (NIDCR)

National Institute for Child Health and Human Development (NICHD)

QB3 (UCBerkeley UCSF UCSC)

American Recovery and Reinvestment Act (ARRA) stimulus funds

UC Santa Cruz Genomics Institute

genomeucscedu

THANK YOU

UC Santa Cruz Genomics Institute

   

Exercises 1 Load example BED and VCF tracks via url 2 Look at custom track data by pasting url into a

web browser 3 Annotate the TFBS custom track using the Data

Integrator 4 Annotate the VCF custom track using the Variant

Annotation Integrator

   

     

Exercise 1 Load example BED and VCF tracks via url

1 Go to the Custom tracks menu bull My Data -gt Custom Tracks

2 Input this url httpbitlycustomtracks (note that you must include the rdquohttprdquo part of this url or you will get an error) and click [submit]

3 Click the [Go to genome browser] button 4 Once in the main Browser jump to this position

bull chr2133034804-33037719 5 See if you can drag your 2 custom tracks to the top of

the display

Exercise 2 Exploring your BED and VCF tracks

1 Now that you have 2 custom tracks loaded take a look at the data by pasting that same url into a web browser

2 These custom tracks are actually data copied from some existing tracks see if you can find them turn them on and observe that the original tracks and custom tracks look the same in the browser bull Track 1 (BED format) Group (Regulation) Super

Track (ENC TF Binding) Track (SYDH TFBS) bull Track 2 (VCF format) Group (Variation) Track

(1000G Ph1 Vars) 3 Navigate to this position for best comparison (esp for the

VCF track) chr2133034804-33037719

   

   

Exercise 3 Annotate your BED with the Data Integrator

1 Go to the Data Integrator 2 Once there select

1 Region to annotate chr2133031597-33041570 2 Add data source group (custom tracks) track (SYDHhellip) [click

add]3 Now choose which annotations you want to add by [add]ing more

tracks to the list ndash ex 1 Find the genes that overlap with your regions group (Genes and

Gene Prediction) track (GENCODE V19) view (Genes)subtrack (Basic) [add]

2 Find the SNPs that overlap with your regions group (Variation)track (Common SNPs) [add]

Choose which fields to include in your outputOutput options -gt Choose fields [Done] -gt [get output]

   

   

   

Exercise 4 Annotate your VCF with the

Variant Annotation Integrator

1 Go to the Variant Annotation Integratorbull Tools -gt VAI

2 Select Variants bull Variants ldquoVCF Ex 1helliprdquo

3 Now choose which annotations you want to addbull To determine which gene regions your variants fall into select a

gene track (Select Genes = ldquoBasic Gene Annotation SethellipGENCODErdquo)

bull Add regulatory annotations Under ldquoSelect Regulatory Annotationsrdquo click the ldquo+rdquo button to choose which TFs to include (or select none to include all binding sites)

Bonus Material

Where to search genomeucsceducgi-binhgGateway

Where to search genomeucsceducgi-binhgGateway

Where to search Main Browser genomeucsceducgi-binhgTracks

Public Hubs

My Data Track Hubs

Where to search genomeucsceducgi-binhgHubConnect

Track search

Track search

Track search

Page 48: Visualizing ENCODE Data in the UCSC Genome Browser · Variant Annotation Integrator 1. Go to the Variant Annotation Integrator • Tools -> V.A.I. 2. Select Variants: • Variants:

THE GB TEAM

UC Santa Cruz Genomics Institute

Funding Sources

National Human Genome Research Institute (NHGRI)

National Cancer Institute (NCI)

National Institute for Dental and Cranio-Facial Research (NIDCR)

National Institute for Child Health and Human Development (NICHD)

QB3 (UCBerkeley UCSF UCSC)

American Recovery and Reinvestment Act (ARRA) stimulus funds

UC Santa Cruz Genomics Institute

genomeucscedu

THANK YOU

UC Santa Cruz Genomics Institute

   

Exercises 1 Load example BED and VCF tracks via url 2 Look at custom track data by pasting url into a

web browser 3 Annotate the TFBS custom track using the Data

Integrator 4 Annotate the VCF custom track using the Variant

Annotation Integrator

   

     

Exercise 1 Load example BED and VCF tracks via url

1 Go to the Custom tracks menu bull My Data -gt Custom Tracks

2 Input this url httpbitlycustomtracks (note that you must include the rdquohttprdquo part of this url or you will get an error) and click [submit]

3 Click the [Go to genome browser] button 4 Once in the main Browser jump to this position

bull chr2133034804-33037719 5 See if you can drag your 2 custom tracks to the top of

the display

Exercise 2 Exploring your BED and VCF tracks

1 Now that you have 2 custom tracks loaded take a look at the data by pasting that same url into a web browser

2 These custom tracks are actually data copied from some existing tracks see if you can find them turn them on and observe that the original tracks and custom tracks look the same in the browser bull Track 1 (BED format) Group (Regulation) Super

Track (ENC TF Binding) Track (SYDH TFBS) bull Track 2 (VCF format) Group (Variation) Track

(1000G Ph1 Vars) 3 Navigate to this position for best comparison (esp for the

VCF track) chr2133034804-33037719

   

   

Exercise 3 Annotate your BED with the Data Integrator

1 Go to the Data Integrator 2 Once there select

1 Region to annotate chr2133031597-33041570 2 Add data source group (custom tracks) track (SYDHhellip) [click

add]3 Now choose which annotations you want to add by [add]ing more

tracks to the list ndash ex 1 Find the genes that overlap with your regions group (Genes and

Gene Prediction) track (GENCODE V19) view (Genes)subtrack (Basic) [add]

2 Find the SNPs that overlap with your regions group (Variation)track (Common SNPs) [add]

Choose which fields to include in your outputOutput options -gt Choose fields [Done] -gt [get output]

   

   

   

Exercise 4 Annotate your VCF with the

Variant Annotation Integrator

1 Go to the Variant Annotation Integratorbull Tools -gt VAI

2 Select Variants bull Variants ldquoVCF Ex 1helliprdquo

3 Now choose which annotations you want to addbull To determine which gene regions your variants fall into select a

gene track (Select Genes = ldquoBasic Gene Annotation SethellipGENCODErdquo)

bull Add regulatory annotations Under ldquoSelect Regulatory Annotationsrdquo click the ldquo+rdquo button to choose which TFs to include (or select none to include all binding sites)

Bonus Material

Where to search genomeucsceducgi-binhgGateway

Where to search genomeucsceducgi-binhgGateway

Where to search Main Browser genomeucsceducgi-binhgTracks

Public Hubs

My Data Track Hubs

Where to search genomeucsceducgi-binhgHubConnect

Track search

Track search

Track search

Page 49: Visualizing ENCODE Data in the UCSC Genome Browser · Variant Annotation Integrator 1. Go to the Variant Annotation Integrator • Tools -> V.A.I. 2. Select Variants: • Variants:

Funding Sources

National Human Genome Research Institute (NHGRI)

National Cancer Institute (NCI)

National Institute for Dental and Cranio-Facial Research (NIDCR)

National Institute for Child Health and Human Development (NICHD)

QB3 (UCBerkeley UCSF UCSC)

American Recovery and Reinvestment Act (ARRA) stimulus funds

UC Santa Cruz Genomics Institute

genomeucscedu

THANK YOU

UC Santa Cruz Genomics Institute

   

Exercises 1 Load example BED and VCF tracks via url 2 Look at custom track data by pasting url into a

web browser 3 Annotate the TFBS custom track using the Data

Integrator 4 Annotate the VCF custom track using the Variant

Annotation Integrator

   

     

Exercise 1 Load example BED and VCF tracks via url

1 Go to the Custom tracks menu bull My Data -gt Custom Tracks

2 Input this url httpbitlycustomtracks (note that you must include the rdquohttprdquo part of this url or you will get an error) and click [submit]

3 Click the [Go to genome browser] button 4 Once in the main Browser jump to this position

bull chr2133034804-33037719 5 See if you can drag your 2 custom tracks to the top of

the display

Exercise 2 Exploring your BED and VCF tracks

1 Now that you have 2 custom tracks loaded take a look at the data by pasting that same url into a web browser

2 These custom tracks are actually data copied from some existing tracks see if you can find them turn them on and observe that the original tracks and custom tracks look the same in the browser bull Track 1 (BED format) Group (Regulation) Super

Track (ENC TF Binding) Track (SYDH TFBS) bull Track 2 (VCF format) Group (Variation) Track

(1000G Ph1 Vars) 3 Navigate to this position for best comparison (esp for the

VCF track) chr2133034804-33037719

   

   

Exercise 3 Annotate your BED with the Data Integrator

1 Go to the Data Integrator 2 Once there select

1 Region to annotate chr2133031597-33041570 2 Add data source group (custom tracks) track (SYDHhellip) [click

add]3 Now choose which annotations you want to add by [add]ing more

tracks to the list ndash ex 1 Find the genes that overlap with your regions group (Genes and

Gene Prediction) track (GENCODE V19) view (Genes)subtrack (Basic) [add]

2 Find the SNPs that overlap with your regions group (Variation)track (Common SNPs) [add]

Choose which fields to include in your outputOutput options -gt Choose fields [Done] -gt [get output]

   

   

   

Exercise 4 Annotate your VCF with the

Variant Annotation Integrator

1 Go to the Variant Annotation Integratorbull Tools -gt VAI

2 Select Variants bull Variants ldquoVCF Ex 1helliprdquo

3 Now choose which annotations you want to addbull To determine which gene regions your variants fall into select a

gene track (Select Genes = ldquoBasic Gene Annotation SethellipGENCODErdquo)

bull Add regulatory annotations Under ldquoSelect Regulatory Annotationsrdquo click the ldquo+rdquo button to choose which TFs to include (or select none to include all binding sites)

Bonus Material

Where to search genomeucsceducgi-binhgGateway

Where to search genomeucsceducgi-binhgGateway

Where to search Main Browser genomeucsceducgi-binhgTracks

Public Hubs

My Data Track Hubs

Where to search genomeucsceducgi-binhgHubConnect

Track search

Track search

Track search

Page 50: Visualizing ENCODE Data in the UCSC Genome Browser · Variant Annotation Integrator 1. Go to the Variant Annotation Integrator • Tools -> V.A.I. 2. Select Variants: • Variants:

genomeucscedu

THANK YOU

UC Santa Cruz Genomics Institute

   

Exercises 1 Load example BED and VCF tracks via url 2 Look at custom track data by pasting url into a

web browser 3 Annotate the TFBS custom track using the Data

Integrator 4 Annotate the VCF custom track using the Variant

Annotation Integrator

   

     

Exercise 1 Load example BED and VCF tracks via url

1 Go to the Custom tracks menu bull My Data -gt Custom Tracks

2 Input this url httpbitlycustomtracks (note that you must include the rdquohttprdquo part of this url or you will get an error) and click [submit]

3 Click the [Go to genome browser] button 4 Once in the main Browser jump to this position

bull chr2133034804-33037719 5 See if you can drag your 2 custom tracks to the top of

the display

Exercise 2 Exploring your BED and VCF tracks

1 Now that you have 2 custom tracks loaded take a look at the data by pasting that same url into a web browser

2 These custom tracks are actually data copied from some existing tracks see if you can find them turn them on and observe that the original tracks and custom tracks look the same in the browser bull Track 1 (BED format) Group (Regulation) Super

Track (ENC TF Binding) Track (SYDH TFBS) bull Track 2 (VCF format) Group (Variation) Track

(1000G Ph1 Vars) 3 Navigate to this position for best comparison (esp for the

VCF track) chr2133034804-33037719

   

   

Exercise 3 Annotate your BED with the Data Integrator

1 Go to the Data Integrator 2 Once there select

1 Region to annotate chr2133031597-33041570 2 Add data source group (custom tracks) track (SYDHhellip) [click

add]3 Now choose which annotations you want to add by [add]ing more

tracks to the list ndash ex 1 Find the genes that overlap with your regions group (Genes and

Gene Prediction) track (GENCODE V19) view (Genes)subtrack (Basic) [add]

2 Find the SNPs that overlap with your regions group (Variation)track (Common SNPs) [add]

Choose which fields to include in your outputOutput options -gt Choose fields [Done] -gt [get output]

   

   

   

Exercise 4 Annotate your VCF with the

Variant Annotation Integrator

1 Go to the Variant Annotation Integratorbull Tools -gt VAI

2 Select Variants bull Variants ldquoVCF Ex 1helliprdquo

3 Now choose which annotations you want to addbull To determine which gene regions your variants fall into select a

gene track (Select Genes = ldquoBasic Gene Annotation SethellipGENCODErdquo)

bull Add regulatory annotations Under ldquoSelect Regulatory Annotationsrdquo click the ldquo+rdquo button to choose which TFs to include (or select none to include all binding sites)

Bonus Material

Where to search genomeucsceducgi-binhgGateway

Where to search genomeucsceducgi-binhgGateway

Where to search Main Browser genomeucsceducgi-binhgTracks

Public Hubs

My Data Track Hubs

Where to search genomeucsceducgi-binhgHubConnect

Track search

Track search

Track search

Page 51: Visualizing ENCODE Data in the UCSC Genome Browser · Variant Annotation Integrator 1. Go to the Variant Annotation Integrator • Tools -> V.A.I. 2. Select Variants: • Variants:

   

Exercises 1 Load example BED and VCF tracks via url 2 Look at custom track data by pasting url into a

web browser 3 Annotate the TFBS custom track using the Data

Integrator 4 Annotate the VCF custom track using the Variant

Annotation Integrator

   

     

Exercise 1 Load example BED and VCF tracks via url

1 Go to the Custom tracks menu bull My Data -gt Custom Tracks

2 Input this url httpbitlycustomtracks (note that you must include the rdquohttprdquo part of this url or you will get an error) and click [submit]

3 Click the [Go to genome browser] button 4 Once in the main Browser jump to this position

bull chr2133034804-33037719 5 See if you can drag your 2 custom tracks to the top of

the display

Exercise 2 Exploring your BED and VCF tracks

1 Now that you have 2 custom tracks loaded take a look at the data by pasting that same url into a web browser

2 These custom tracks are actually data copied from some existing tracks see if you can find them turn them on and observe that the original tracks and custom tracks look the same in the browser bull Track 1 (BED format) Group (Regulation) Super

Track (ENC TF Binding) Track (SYDH TFBS) bull Track 2 (VCF format) Group (Variation) Track

(1000G Ph1 Vars) 3 Navigate to this position for best comparison (esp for the

VCF track) chr2133034804-33037719

   

   

Exercise 3 Annotate your BED with the Data Integrator

1 Go to the Data Integrator 2 Once there select

1 Region to annotate chr2133031597-33041570 2 Add data source group (custom tracks) track (SYDHhellip) [click

add]3 Now choose which annotations you want to add by [add]ing more

tracks to the list ndash ex 1 Find the genes that overlap with your regions group (Genes and

Gene Prediction) track (GENCODE V19) view (Genes)subtrack (Basic) [add]

2 Find the SNPs that overlap with your regions group (Variation)track (Common SNPs) [add]

Choose which fields to include in your outputOutput options -gt Choose fields [Done] -gt [get output]

   

   

   

Exercise 4 Annotate your VCF with the

Variant Annotation Integrator

1 Go to the Variant Annotation Integratorbull Tools -gt VAI

2 Select Variants bull Variants ldquoVCF Ex 1helliprdquo

3 Now choose which annotations you want to addbull To determine which gene regions your variants fall into select a

gene track (Select Genes = ldquoBasic Gene Annotation SethellipGENCODErdquo)

bull Add regulatory annotations Under ldquoSelect Regulatory Annotationsrdquo click the ldquo+rdquo button to choose which TFs to include (or select none to include all binding sites)

Bonus Material

Where to search genomeucsceducgi-binhgGateway

Where to search genomeucsceducgi-binhgGateway

Where to search Main Browser genomeucsceducgi-binhgTracks

Public Hubs

My Data Track Hubs

Where to search genomeucsceducgi-binhgHubConnect

Track search

Track search

Track search

Page 52: Visualizing ENCODE Data in the UCSC Genome Browser · Variant Annotation Integrator 1. Go to the Variant Annotation Integrator • Tools -> V.A.I. 2. Select Variants: • Variants:

   

     

Exercise 1 Load example BED and VCF tracks via url

1 Go to the Custom tracks menu bull My Data -gt Custom Tracks

2 Input this url httpbitlycustomtracks (note that you must include the rdquohttprdquo part of this url or you will get an error) and click [submit]

3 Click the [Go to genome browser] button 4 Once in the main Browser jump to this position

bull chr2133034804-33037719 5 See if you can drag your 2 custom tracks to the top of

the display

Exercise 2 Exploring your BED and VCF tracks

1 Now that you have 2 custom tracks loaded take a look at the data by pasting that same url into a web browser

2 These custom tracks are actually data copied from some existing tracks see if you can find them turn them on and observe that the original tracks and custom tracks look the same in the browser bull Track 1 (BED format) Group (Regulation) Super

Track (ENC TF Binding) Track (SYDH TFBS) bull Track 2 (VCF format) Group (Variation) Track

(1000G Ph1 Vars) 3 Navigate to this position for best comparison (esp for the

VCF track) chr2133034804-33037719

   

   

Exercise 3 Annotate your BED with the Data Integrator

1 Go to the Data Integrator 2 Once there select

1 Region to annotate chr2133031597-33041570 2 Add data source group (custom tracks) track (SYDHhellip) [click

add]3 Now choose which annotations you want to add by [add]ing more

tracks to the list ndash ex 1 Find the genes that overlap with your regions group (Genes and

Gene Prediction) track (GENCODE V19) view (Genes)subtrack (Basic) [add]

2 Find the SNPs that overlap with your regions group (Variation)track (Common SNPs) [add]

Choose which fields to include in your outputOutput options -gt Choose fields [Done] -gt [get output]

   

   

   

Exercise 4 Annotate your VCF with the

Variant Annotation Integrator

1 Go to the Variant Annotation Integratorbull Tools -gt VAI

2 Select Variants bull Variants ldquoVCF Ex 1helliprdquo

3 Now choose which annotations you want to addbull To determine which gene regions your variants fall into select a

gene track (Select Genes = ldquoBasic Gene Annotation SethellipGENCODErdquo)

bull Add regulatory annotations Under ldquoSelect Regulatory Annotationsrdquo click the ldquo+rdquo button to choose which TFs to include (or select none to include all binding sites)

Bonus Material

Where to search genomeucsceducgi-binhgGateway

Where to search genomeucsceducgi-binhgGateway

Where to search Main Browser genomeucsceducgi-binhgTracks

Public Hubs

My Data Track Hubs

Where to search genomeucsceducgi-binhgHubConnect

Track search

Track search

Track search

Page 53: Visualizing ENCODE Data in the UCSC Genome Browser · Variant Annotation Integrator 1. Go to the Variant Annotation Integrator • Tools -> V.A.I. 2. Select Variants: • Variants:

Exercise 2 Exploring your BED and VCF tracks

1 Now that you have 2 custom tracks loaded take a look at the data by pasting that same url into a web browser

2 These custom tracks are actually data copied from some existing tracks see if you can find them turn them on and observe that the original tracks and custom tracks look the same in the browser bull Track 1 (BED format) Group (Regulation) Super

Track (ENC TF Binding) Track (SYDH TFBS) bull Track 2 (VCF format) Group (Variation) Track

(1000G Ph1 Vars) 3 Navigate to this position for best comparison (esp for the

VCF track) chr2133034804-33037719

   

   

Exercise 3 Annotate your BED with the Data Integrator

1 Go to the Data Integrator 2 Once there select

1 Region to annotate chr2133031597-33041570 2 Add data source group (custom tracks) track (SYDHhellip) [click

add]3 Now choose which annotations you want to add by [add]ing more

tracks to the list ndash ex 1 Find the genes that overlap with your regions group (Genes and

Gene Prediction) track (GENCODE V19) view (Genes)subtrack (Basic) [add]

2 Find the SNPs that overlap with your regions group (Variation)track (Common SNPs) [add]

Choose which fields to include in your outputOutput options -gt Choose fields [Done] -gt [get output]

   

   

   

Exercise 4 Annotate your VCF with the

Variant Annotation Integrator

1 Go to the Variant Annotation Integratorbull Tools -gt VAI

2 Select Variants bull Variants ldquoVCF Ex 1helliprdquo

3 Now choose which annotations you want to addbull To determine which gene regions your variants fall into select a

gene track (Select Genes = ldquoBasic Gene Annotation SethellipGENCODErdquo)

bull Add regulatory annotations Under ldquoSelect Regulatory Annotationsrdquo click the ldquo+rdquo button to choose which TFs to include (or select none to include all binding sites)

Bonus Material

Where to search genomeucsceducgi-binhgGateway

Where to search genomeucsceducgi-binhgGateway

Where to search Main Browser genomeucsceducgi-binhgTracks

Public Hubs

My Data Track Hubs

Where to search genomeucsceducgi-binhgHubConnect

Track search

Track search

Track search

Page 54: Visualizing ENCODE Data in the UCSC Genome Browser · Variant Annotation Integrator 1. Go to the Variant Annotation Integrator • Tools -> V.A.I. 2. Select Variants: • Variants:

   

   

Exercise 3 Annotate your BED with the Data Integrator

1 Go to the Data Integrator 2 Once there select

1 Region to annotate chr2133031597-33041570 2 Add data source group (custom tracks) track (SYDHhellip) [click

add]3 Now choose which annotations you want to add by [add]ing more

tracks to the list ndash ex 1 Find the genes that overlap with your regions group (Genes and

Gene Prediction) track (GENCODE V19) view (Genes)subtrack (Basic) [add]

2 Find the SNPs that overlap with your regions group (Variation)track (Common SNPs) [add]

Choose which fields to include in your outputOutput options -gt Choose fields [Done] -gt [get output]

   

   

   

Exercise 4 Annotate your VCF with the

Variant Annotation Integrator

1 Go to the Variant Annotation Integratorbull Tools -gt VAI

2 Select Variants bull Variants ldquoVCF Ex 1helliprdquo

3 Now choose which annotations you want to addbull To determine which gene regions your variants fall into select a

gene track (Select Genes = ldquoBasic Gene Annotation SethellipGENCODErdquo)

bull Add regulatory annotations Under ldquoSelect Regulatory Annotationsrdquo click the ldquo+rdquo button to choose which TFs to include (or select none to include all binding sites)

Bonus Material

Where to search genomeucsceducgi-binhgGateway

Where to search genomeucsceducgi-binhgGateway

Where to search Main Browser genomeucsceducgi-binhgTracks

Public Hubs

My Data Track Hubs

Where to search genomeucsceducgi-binhgHubConnect

Track search

Track search

Track search

Page 55: Visualizing ENCODE Data in the UCSC Genome Browser · Variant Annotation Integrator 1. Go to the Variant Annotation Integrator • Tools -> V.A.I. 2. Select Variants: • Variants:

   

   

   

Exercise 4 Annotate your VCF with the

Variant Annotation Integrator

1 Go to the Variant Annotation Integratorbull Tools -gt VAI

2 Select Variants bull Variants ldquoVCF Ex 1helliprdquo

3 Now choose which annotations you want to addbull To determine which gene regions your variants fall into select a

gene track (Select Genes = ldquoBasic Gene Annotation SethellipGENCODErdquo)

bull Add regulatory annotations Under ldquoSelect Regulatory Annotationsrdquo click the ldquo+rdquo button to choose which TFs to include (or select none to include all binding sites)

Bonus Material

Where to search genomeucsceducgi-binhgGateway

Where to search genomeucsceducgi-binhgGateway

Where to search Main Browser genomeucsceducgi-binhgTracks

Public Hubs

My Data Track Hubs

Where to search genomeucsceducgi-binhgHubConnect

Track search

Track search

Track search

Page 56: Visualizing ENCODE Data in the UCSC Genome Browser · Variant Annotation Integrator 1. Go to the Variant Annotation Integrator • Tools -> V.A.I. 2. Select Variants: • Variants:

Bonus Material

Where to search genomeucsceducgi-binhgGateway

Where to search genomeucsceducgi-binhgGateway

Where to search Main Browser genomeucsceducgi-binhgTracks

Public Hubs

My Data Track Hubs

Where to search genomeucsceducgi-binhgHubConnect

Track search

Track search

Track search

Page 57: Visualizing ENCODE Data in the UCSC Genome Browser · Variant Annotation Integrator 1. Go to the Variant Annotation Integrator • Tools -> V.A.I. 2. Select Variants: • Variants:

Where to search genomeucsceducgi-binhgGateway

Where to search genomeucsceducgi-binhgGateway

Where to search Main Browser genomeucsceducgi-binhgTracks

Public Hubs

My Data Track Hubs

Where to search genomeucsceducgi-binhgHubConnect

Track search

Track search

Track search

Page 58: Visualizing ENCODE Data in the UCSC Genome Browser · Variant Annotation Integrator 1. Go to the Variant Annotation Integrator • Tools -> V.A.I. 2. Select Variants: • Variants:

Where to search genomeucsceducgi-binhgGateway

Where to search Main Browser genomeucsceducgi-binhgTracks

Public Hubs

My Data Track Hubs

Where to search genomeucsceducgi-binhgHubConnect

Track search

Track search

Track search

Page 59: Visualizing ENCODE Data in the UCSC Genome Browser · Variant Annotation Integrator 1. Go to the Variant Annotation Integrator • Tools -> V.A.I. 2. Select Variants: • Variants:

Where to search Main Browser genomeucsceducgi-binhgTracks

Public Hubs

My Data Track Hubs

Where to search genomeucsceducgi-binhgHubConnect

Track search

Track search

Track search

Page 60: Visualizing ENCODE Data in the UCSC Genome Browser · Variant Annotation Integrator 1. Go to the Variant Annotation Integrator • Tools -> V.A.I. 2. Select Variants: • Variants:

Public Hubs

My Data Track Hubs

Where to search genomeucsceducgi-binhgHubConnect

Track search

Track search

Track search

Page 61: Visualizing ENCODE Data in the UCSC Genome Browser · Variant Annotation Integrator 1. Go to the Variant Annotation Integrator • Tools -> V.A.I. 2. Select Variants: • Variants:

Where to search genomeucsceducgi-binhgHubConnect

Track search

Track search

Track search

Page 62: Visualizing ENCODE Data in the UCSC Genome Browser · Variant Annotation Integrator 1. Go to the Variant Annotation Integrator • Tools -> V.A.I. 2. Select Variants: • Variants:

Track search

Track search

Track search

Page 63: Visualizing ENCODE Data in the UCSC Genome Browser · Variant Annotation Integrator 1. Go to the Variant Annotation Integrator • Tools -> V.A.I. 2. Select Variants: • Variants:

Track search

Track search

Page 64: Visualizing ENCODE Data in the UCSC Genome Browser · Variant Annotation Integrator 1. Go to the Variant Annotation Integrator • Tools -> V.A.I. 2. Select Variants: • Variants:

Track search