Functional noncoding SNPs in human endothelial cells fine-map vascular trait associations

Allele-specific enhancer function is associated with motif mutations. (A) Volcano plot of allele-specific effects in STARR-seq with the log₂ fold change on the x axis and −log₁₀ false discovery rate on the y-axis. All oligos, representing both reference and alternative alleles for each variable position, from each replicate were analyzed. (B) Dot-plot presenting the hypergeometric enrichment –log(P-value) and KS testing –log(P-value) of the top 50 most enriched motifs mutated in the validated set from STARR-seq. Motifs that are directly for ETS family or AP-1 family transcription factors are indicated. (C) PWM motif mutation score density for ERG motif mutations in validated (red) and nonvalidated (gray). (D) PWM motif mutation score density for ATF3 motif mutations in validated (red) and nonvalidated (gray). (E) PWM motif mutation score (x-axis) versus the SVM motif mutation score for ERG motif mutation SNPs. (F) PWM motif mutation score (x-axis) versus the SVM motif mutation score for ATF3 motif mutation SNPs. (G) Enrichment of SVM (blue) and PWM motif mutations scores (orange) in the STARR-seq-validated set.