Fig. 3
From: INFIMA leverages multi-omics model organism data to identify effector genes of human GWAS variants
Genetic variants associate with differential chromatin accessibility in the islets of DO founder strains. a Footprint analysis of ATAC-seq peaks. Transcription factors in black labels are expressed in founder islets (Additional file 1: Figure S11). b Overview of local-ATAC-MV identification, footprint, and in silico mutation analysis with atSNP. c A subset of SNPs (rows) that enhance/disrupt islet specific footprints (columns). The circles depict changes in the footprint depth with the SNP and reference alleles (ΔFPD=FPDSNP−FPDREF). Enhancement and disruption based on comparative FPD are depicted by shades of red and blue, respectively. The circle size indicates the significance of the impacts of the SNP alleles to the motif matches as calculated by atSNP [35]. Larger circles correspond to more significant changes in the motif match. Examples in d and e are highlighted by red boxes in c. d atSNP composite logo plot depicting Nkx2-2 binding site enhancement by SNP rs223633842 (G → T). e atSNP composite logo plot depicting Pax6 binding site disruption by SNP rs238913491 (A → C)