Table 1. GTEx variant annotations.
Dataset | >5% MAF GTEx variants | |
---|---|---|
Count | Percent | |
All | 6,539,590 | - |
Caviar fine-mapped set | 2,867,556 | 44% |
ENCODE TF ChIP-seq peak | 1,425,613 | 22% |
HOCOMOCO TF motif | 3,716,312 | 57% |
Intersection | 473,057 | 7% |
Overlap of variants with >5% minor allele frequency (MAF) in the GTEx dataset that overlap various eQTL and TF annotations. Percent is based on all 5% MAF variants. Filtering eQTL variants for TF binding sites based on TF ChIP-seq peak overlaps and TF motif matches still results in a large number of potentially causal eQTL variants.