Fig. 5: Identification of variant overlapping and variant adjacent TFs.
From: Global discovery of lupus genetic risk variant allelic enhancer activity
a Model of variant overlapping and variant adjacent transcription factors (TFs). Variant overlapping TFs (blue) allelically bind on top of variants, while variant adjacent TFs (orange) allelically bind near variants. b TF binding site location distribution for variant overlapping (blue) and variant adjacent (orange) TFs, relative to allelic enVars. c TF motif families enriched for participating as variant overlapping TFs at allelic enVars. Motif disruption p-values were estimated by a two-sided proportions test by comparing the fraction of motif disruption events at allelic enVars to the fraction observed at non-allelic enVars (see “Methods”). d TF motif families enriched for participating as variant adjacent TFs at allelic enVars. Motif enrichment p-values were estimated by a two-sided proportions test by comparing the fraction of predicted TF binding sites in allelic enVars to random expectation (see “Methods”). For both the variant overlapping and variant adjacent analyses, motif families are shown with padj < 0.0001 and three or more allelic events at allelic enVar loci, or five or more predicted binding sites at allelic enVar loci, respectively.
