Fig. 8

INFIMA generates candidate susceptibility genes for human GWAS SNPs. a Comparison of genomic location annotations between human GWAS SNPs and the orthologous mouse genetic variants. Left: numbers of mapped GWAS SNPs within intronic, distal, promoter, exonic, UTR, and downstream genomic locations. Right: Barplots of the local-ATAC-MVs mapping to the intronic, distal, and promoter groups of GWAS SNPs, highlighting marked conservation of genomic location types. b Mapped GWAS SNPs are enriched for local-ATAC-MVs. The numbers in parentheses depict the numbers of GWAS SNPs for each trait and the blue dashed line marks the threshold for the Bonferroni adjusted cutoff at 0.05. c Summary of validation of INFIMA suggested susceptibility genes for human GWAS SNPs mapped to mouse with promoter capture Hi-C (pcHi-C). d, f pcHi-C links ABCC8 promoter to 4 GWAS SNPs which map to 3 mouse local-ATAC-MVs with INFIMA predicted effector gene Abcc8. e, g Promoter capture Hi-C links PDX1 promoter to 10 distal GWAS SNPs which map to 3 mouse local-ATAC-MVs with INFIMA predicted effector gene of Pdx1. d, e Human genome depictions of interactions of distal GWAS SNPs (translucent green) with the ABCC8 and PDX1 promoters (translucent gray), together with the human ATAC-seq peaks. f, g Mouse genome depiction of ATAC-seq signal for local-ATAC-MVs (translucent red) where INFIMA fine-maps DO-eQTL marker (dashed line) linked to genes Abcc8 and Pdx1 (promoters highlighted in translucent gray)