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Web portal for eRNA-QTLs
A step-by-step guide
Data and methods
• Data were obtained from the Genotype-Tissue Expression (GTEx),
including 838 donors, 54 tissues, and two cell lines. Genotype data from
whole-genome sequencing (WGS) was sequenced on an Illumina HiSeq
2000.
• To test for eRNA-QTLs, we first used the permutation pass with 1000
permutations recommended to characterize the null distribution of
associations for each eRNA separately and obtained a 5% false
discovery rate for multiple testing applied in R using qvalue. Second, a
nominal pass was performed. Nominal p-values for all SNP-eRNA pairs
within the cis-window (1Mbp) were obtained with the nominal pass
implemented in the QTLtools package. Both permutation and nominal
pass were applied the QTLtools-implemented “--normal” option to rank
normal transform the phenotype quantifications. SNP-eRNA associations
reaching the significance threshold corresponding to FDR < 0.05 were
retained to further analysis. The eRNA expression matrix was also
normalized using the “--normal” option. Linear regression analysis was
performed between SNPs and all eRNAs outside their cis windows
(1Mbp), accounting for the covariates previously mentioned.
Part 1: Querying eRNA-QTLs of interest
Part 2: Genome Browser
Part 3: Visualization of GWAS and eRNA-QTLs
colocalization events
Part 4: Downloading data of eRNA-QTLs
Step 2:
Select tissue type of interest (e.g.
Adipose_Subcutaneous)
Part 1 Querying eRNA-QTLs of interest
Step 1: Quick search by gene symbol or rs ID
(e.g. ENSR00000069687 or rs4467826)
Step 3:
Search a rsid ( e.g.
rs9323457)
Step 4:
Relevant eRNA-QTLs will
automatically show
Part 2 Genome Browser
Step 1: Click “Genome Browser” in navigation bar.
IGV.js was used to construct the frame of genome browser
Based on the hg38 genome
Download SVG
Search by genome position (e.g.
chr14:64423444-65063275).
Mouse click to see
detailed information
Mouse click to config tracks
Part 2 Genome Browser
Part 3 Visualization of GWAS and eRNA-QTLs
colocalization events
Step 1: Click to load
example data
Quick guide
Part 3 Visualization of GWAS and eRNA-QTLs
colocalization events
Step 2: Click to plot
Step 3: Download
PDF file
Part 3 Downloading data of eRNA
QTLs Step 1: Click
“Downloads” h
Step 2:
Click any file name for Visualizing
and Downloading
Download file:

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eRNA_QTL_website.pptx

  • 1. Web portal for eRNA-QTLs A step-by-step guide
  • 2. Data and methods • Data were obtained from the Genotype-Tissue Expression (GTEx), including 838 donors, 54 tissues, and two cell lines. Genotype data from whole-genome sequencing (WGS) was sequenced on an Illumina HiSeq 2000. • To test for eRNA-QTLs, we first used the permutation pass with 1000 permutations recommended to characterize the null distribution of associations for each eRNA separately and obtained a 5% false discovery rate for multiple testing applied in R using qvalue. Second, a nominal pass was performed. Nominal p-values for all SNP-eRNA pairs within the cis-window (1Mbp) were obtained with the nominal pass implemented in the QTLtools package. Both permutation and nominal pass were applied the QTLtools-implemented “--normal” option to rank normal transform the phenotype quantifications. SNP-eRNA associations reaching the significance threshold corresponding to FDR < 0.05 were retained to further analysis. The eRNA expression matrix was also normalized using the “--normal” option. Linear regression analysis was performed between SNPs and all eRNAs outside their cis windows (1Mbp), accounting for the covariates previously mentioned.
  • 3. Part 1: Querying eRNA-QTLs of interest Part 2: Genome Browser Part 3: Visualization of GWAS and eRNA-QTLs colocalization events Part 4: Downloading data of eRNA-QTLs
  • 4. Step 2: Select tissue type of interest (e.g. Adipose_Subcutaneous) Part 1 Querying eRNA-QTLs of interest Step 1: Quick search by gene symbol or rs ID (e.g. ENSR00000069687 or rs4467826)
  • 5. Step 3: Search a rsid ( e.g. rs9323457)
  • 6. Step 4: Relevant eRNA-QTLs will automatically show
  • 7. Part 2 Genome Browser Step 1: Click “Genome Browser” in navigation bar.
  • 8. IGV.js was used to construct the frame of genome browser Based on the hg38 genome Download SVG Search by genome position (e.g. chr14:64423444-65063275).
  • 9. Mouse click to see detailed information Mouse click to config tracks Part 2 Genome Browser
  • 10. Part 3 Visualization of GWAS and eRNA-QTLs colocalization events Step 1: Click to load example data Quick guide
  • 11. Part 3 Visualization of GWAS and eRNA-QTLs colocalization events Step 2: Click to plot Step 3: Download PDF file
  • 12. Part 3 Downloading data of eRNA QTLs Step 1: Click “Downloads” h
  • 13. Step 2: Click any file name for Visualizing and Downloading Download file: