Mapping of promoter usage QTL using RNA-seq data reveals their contributions to complex traits
Fig 4
(A) The TMBIM1 gene locus. Structures of the TMBIM1 assembled in this study are presented in black with ENCODE GM12878 H3K4me3 and H3K27ac ChIP-seq signals. The isoforms transcribed from prmtr.64998 are shown in red. The vertical blue bars indicate the location of active promoters. The black bar indicates the location of the rs2382817 variant. (B, C) Comparison of the promoter activities (B) and total expression levels (C) of the TMBIM1 gene among the rs2382817 genotypes. The numbers in parentheses indicate sample size. (D) The associations of puQTL, fine-mapped puQTL for prmtr.64998, eQTL for TMBIM1, and GWAS of inflammatory bowel disease (IBD) are shown from the top to bottom panels. rs2382817 is plotted in a red diamond, and the colors indicate r-squared values between rs2382817 and other variants. (E) The MAPKAP1 gene locus. The structures of the MAPKAP1 gene assembled in this study are presented in black, and the isoforms transcribed from prmtr.109751 are shown in red. (F, G) Comparison of the promoter activities (F) and total expression levels (G) of the MAPKAP1 gene among the rs631287 genotypes. (H) The associations of puQTL, fine-mapped puQTL for prmtr.109751, eQTL for MAPKAP1, and GWAS of diverticular disease are shown from the top to bottom panels.