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. 2022 Feb 9;31(14):2333–2347. doi: 10.1093/hmg/ddac011

Figure 4.

Figure 4

IRAK1BP1 locus EpiGenome browser. Figure demonstrates the cell type-specific epigenetic information linking IRAK1BP1 and mean platelet volume. Figure A shows that variants within IRAK1BP1 were identified as GWAS significant variants in Vuckovic et al. (3), but the signal at this locus was attenuated after conditioning on a locus 8 Mb away (sentinel variant chr6:71326034_G_A). (B) Several of these variants are included in the IRAK1BP1 TWAS prediction model. (C) Promoter-capture Hi-C data support that TWAS model variants for IRAK1BP1 form a loop with the promoter region of LCA5, a Mendelian disease gene for Leber congenital amaurosis. LCA5 was not available in our DGN expression dataset. (D) LCA5 is more strongly expressed in MK cell lines compared to IRAK1BP1. (E) TWAS model variants overlap with MK ATACseq peaks.