Table 2.
Functional annotation of AF-associated and eQTL variants prioritized by Bayesian fine-mapping
| Sentinel GWAS variant | eGene | Prioritized variant | CHR:POS (hg38) | PIP AF GWAS | PIP CTSN | PIP Harbin | Left atrial appendage multiome |
Cis-element ATLAS (CATlas) |
EpiMap |
ENCODE | |
|---|---|---|---|---|---|---|---|---|---|---|---|
| Prioritized variant in ATAC peak | Link between ATAC peak and eGene promoter | Prioritized variant in cardiomyocyte ATAC peak | Prioritized variant in element linked to eGene in heart | ||||||||
| rs4970418 | PERM1 | rs74045046 | 1:976536 | 0.141 | 0.282 | ND | enhD | ||||
| rs56028034 | 1:981282 | 0.1 | 0.202 | ND | |||||||
| rs7612445 | GNB4 | rs7612445 | 3:179455191 | 0.422 | 0.5 | 0.333 | Yes | Yes | Yes | Yes | |
| rs7634416 | 3:179455436 | 0.348 | 0.5 | 0.333 | |||||||
| rs3756687 | FAM13B | rs3756687 | 5:137866004 | 0.791 | 0.333 | ND | |||||
| rs7722600 | 5:137859073 | 0.105 | 0.333 | ND | Yes | enhD | |||||
| rs34969716 | KDM1B | rs34969716 | 6:18209878 | 0.999 | 0.137 | ND | Yes | Yes | Yes | enhD | |
| rs11156751 | AKAP6 | rs7140396 | 14:32514611 | 0.283 | ND | 0.307 | |||||
| rs10873298 | AC007686.1 | rs12889775 | 14:76959734 | 0.134 | 0.25 | NC | |||||
| LINC01629 | rs12889775 | 14:76959734 | 0.134 | 0.25 | NC | ||||||
| AC007686.1 | rs10873298 | 14:76960182 | 0.264 | 0.25 | NC | enhP | |||||
| LINC01629 | rs10873298 | 14:76960182 | 0.264 | 0.25 | NC | enhP | |||||
| AC007686.1 | rs10873299 | 14:76960368 | 0.21 | 0.25 | NC | enhP | |||||
| LINC01629 | rs10873299 | 14:76960368 | 0.21 | 0.25 | NC | enhP | |||||
| AC007686.1 | rs8181996 | 14:77427469 | 0.264 | 0.25 | NC | ||||||
| LINC01629 | rs8181996 | 14:77427469 | 0.264 | 0.25 | NC | ||||||
| rs12908004 | AC016705.2 | rs12908004 | 15:80384583 | 1 | 0.989 | 0.792 | DNase and H3K4me3 mark | ||||
| ARNT2 | rs12908004 | 15:80384583 | 1 | 0.984 | 0.887 | DNase and H3K4me3 mark | |||||
| CTXND1 | rs12908004 | 15:80384583 | 1 | 0.222 | ND | DNase and H3K4me3 mark | |||||
| rs242557 | MAPT | rs242557 | 17:45942346 | 0.988 | 1 | 1 | Yes | Yes | Yes | Yes | enhD |
| MAPT-IT1 | rs242557 | 17:45942346 | 0.988 | 0.997 | ND | Yes | Yes | Yes | enhD | ||
| STH | rs242557 | 17:45942346 | 0.988 | 0.991 | ND | Yes | Yes | Yes | enhD | ||
| rs6089752 | MIR1-1HG-AS1 | rs6089753 | 20:62556900 | 0.139 | 0.393 | ND | |||||
For variants with posterior inclusion probability (PIP) > 0.1 in the AF GWAS and at least one of the eQTL study, we retrieved functional annotations from our single-nucleus multiome RNA-sequencing and ATAC-sequencing experiment, the cis-element ATLAS (CATlas), EpiMap, and ENCODE. ND, not determined because the association was not significant in this dataset; NC, not in the 95% credible set; enhD, distal enhancer; enhP, proximal enhancer.