Functional characterization of ASB variants. (A) Proportion of ASB variants that overlap an ASB variant in ADASTRA for TFs profiled in both studies. (Light teal) Overlap occurs between the same TF between the studies; (dark teal) overlap occurs between different TFs. (B) Enrichment for effect direction concordance (i.e., increase in binding corresponds with increase in regulatory activity) with SuRE-seq data in K562 and HepG2 cells. Error bars indicate the 95% CI. (C) The odds ratio of effect direction concordance for GTEx eQTLs found in the brain and overlapping a significant ASB variant for various ASB P-value thresholds. Error bars indicate the 95% CI. (D) For each TF, the proportion of ASB variants that overlap an eQTL versus the proportion of those variants that agree on effect direction. (E) Histogram showing the distribution of distances from the TSS of an allele-specific gene to the closest ASB variant.
