Table 3.
Relevant epigenetic features of genome-wide significant SNPs.
| SNP | Nearby gene | Function | Position | 3D_score | RegulomeDB score | Weight 3d score | Weight regulome | eqtl | Enhancer | rSNP | PCHiC | TFBS | ASE/ASB | Total |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| rs8043085 | RASGRP1 | intron 2 | 38,828,140 | 25.72 | 5 | 2 | 2 | 1 | 1 | 1 | 1 | 1 | 0 | 9 |
| rs8032939 | RASGRP1 | intron2 | 38,834,033 | 4.67 | 7 | 0 | 0 | 3 | 1 | 1 | 1 | 1 | 1 | 8 |
| rs8035957 | RASGRP1 | intron2 | 38,838,264 | 1.85 | 7 | 0 | 0 | 4 | 1 | 1 | 0 | 1 | 1 | 8 |
| rs28536554 | RASGRP1 | intron2 | 38,838,432 | 2.12 | 6 | 0 | 1 | 2 | 1 | 1 | 0 | 1 | 1 | 7 |
| rs72727387 | RASGRP1 | intron2 | 38,843,476 | 3.55 | 6 | 0 | 1 | 2 | 2 | 1 | 0 | 1 | 1 | 8 |
| rs72727388 | RASGRP1 | intron2 | 38,843,694 | 3.56 | 7 | 0 | 0 | 2 | 2 | 1 | 0 | 1 | 1 | 7 |
| rs28582094 | RASGRP1 | intron2 | 38,843,887 | 4.04 | 6 | 0 | 1 | 2 | 2 | 1 | 0 | 1 | 1 | 8 |
| rs12593201 | RASGRP1 | intron2 | 38,844,106 | 5.49 | 7 | 0 | 0 | 3 | 2 | 1 | 1 | 1 | 1 | 9 |
| rs36027443 | RASGRP1 | intron2 | 38,846,347 | 11.23 | 5 | 1 | 2 | 2 | 2 | 0 | 1 | 1 | 0 | 9 |
| rs7170151 | RASGRP1 | intron2 | 38,846,678 | 20.04 | 3a | 2 | 4 | 3 | 2 | 1 | 1 | 1 | 1 | 15 |
| rs6495979 | RASGRP1 | intron2 | 38,847,359 | 8.79 | 7 | 1 | 0 | 3 | 2 | 1 | 1 | 1 | 1 | 10 |
| rs11348849 | RASGRP1 | intron2 | 38,847,877 | 8.09 | 7 | 1 | 0 | 0 | 2 | 1 | 1 | 0 | 0 | 5 |
| rs11631591 | RASGRP1 | intron2 | 38,850,262 | 6.86 | 3a | 1 | 4 | 2 | 2 | 1 | 1 | 1 | 1 | 13 |
| rs7173565 | RASGRP1 | intron2 | 38,850,330 | 8.41 | 4 | 1 | 3 | 4 | 2 | 1 | 1 | 1 | 1 | 14 |
| rs62006173 | RASGRP1-C15orf53 | intergenic | 38,906,396 | 2.36 | 6 | 0 | 1 | 0 | 0 | 0 | 0 | 1 | 3 | 5 |
| rs11073341 | RASGRP1-C15orf53 | intergenic | 38,908,135 | 1.26 | 5 | 0 | 2 | 3 | 0 | 0 | 0 | 1 | 3 | 9 |
| rs9920715 | RASGRP1-C15orf53 | intergenic | 38,916,906 | 7.83 | 3a | 1 | 4 | 3 | 0 | 0 | 1 | 1 | 2 | 12 |
| rs12900339 | RASGRP1-C15orf53 | intergenic | 38,927,386 | 0.81 | 6 | 0 | 1 | 3 | 0 | 0 | 0 | 1 | 3 | 8 |
| rs12324579 | RASGRP1-C15orf110 | intergenic | 38,927,510 | 1 | 7 | 0 | 0 | 1 | 0 | 0 | 0 | 0 | 0 | 1 |
We integrated scores from 3dSNP, RegulomeDB and rSNP with blood cell-specific information for eQTLs, enhancer/super-enhancer existence, promoter capture HI-C (PCHiC), transcription factor binding site (TFBS) disruption and allele-specific expression/binding (ASE/ASB) into a weighted score for SNP prioritization. We chose the top three SNPs for further validation (rs11631591 and rs7173565 were used together because of the short distance between them). The top five SNPs are presented in bold.