Locus | SNV | RegulomeDB*† score | Promoter histone marks | Enhancer histone marks | DNAse hypersensitivity | TFs bound‡ | eQTL in blood cells | eQTL in other tissues |
PRDM1 | rs6924535 | 0.703 | Yes | Yes | Yes | |||
APOA1BP | rs942960 | 0.554 | Yes | Yes | APOA1BP | GPATCH4 | ||
MERTK | rs56097910 | 0.579 | Yes | Yes | Yes | EBF1, PAX5C20 | MERTK | MERTK, TMEM87B |
MERTK | rs13419523 | 0.705 | Yes | Yes | MAFK | MERTK | MERTK, FBLN7 |
*The RegulomeDB probability score is ranging from 0 to 1, with 1 being most likely to be a regulatory variant.
†Boyle et al.29
‡Transcription factors (TFs) bound in ChIP-Seq experiments (ENCODE Project Consortium, 2011).
eQTL, expression quantitative trait locus; SNV, single nucleotide variant.