Table 2.
Summary of molQTL Analysis in Endothelial Cells
| IL-1B | # Peaks with cis-Variation MAF > 5% Tested for Association | Significant molQTLs (SNP-Peak Pairs) | Unique Peaks with ≥ 1 Significant molQTL | % Peaks Tested with ≥ 1 Significant molQTL | % Variants Tested Underlying Significant molQTLs |
|---|---|---|---|---|---|
| H3K27ac ChIP-seq | |||||
| - | 84,820 | 25,621 | 2,620 | 3.81% | 6.52% |
| + | 91,950 | 21,634 | 2,130 | 2.96% | 5.61% |
| ATAC-seq | |||||
| - | 435,081 | 3,905 | 2,815 | 3.46% | 3.62% |
| + | 390,257 | 4,704 | 3,415 | 4.88% | 4.97% |
| ERG ChIP-seq | |||||
| - | 69,342 | 557 | 354 | 1.40% | 1.52% |
| p65 ChIP-seq | |||||
| + | 154,714 | 5,791 | 3,742 | 6.19% | 6.41% |
Pileups of unique mapped tags at regulatory elements (peaks) per donor were used as quantitative traits in quantitative trait locus (QTL) mapping, and associations were termed molecular QTLs (molQTLs). molQTL results are shown for each epigenetic assay (rows), with significance defined by 5% false discovery at the locus level using RASQUAL software. IL-1b—interleukin 1 beta. MAF—minor allele frequency. H3K27ac— acetylation of lysine 27 on histone H3. ChIP-seq— chromatin immunoprecipitation with sequencing. ATAC-seq—assay for transposase-accessible chromatin with sequencing.