Large artery stroke- and pulse pressure–associated locus at gene POU4F1. (A) Locus zoom plots depicting the SNPs present in the region surrounding POU4F1 locus and the –log(P-values) in the following data sets: eQTL within HAECs (Stolze et al. 2020); eQTLs in artery aorta by GTEx; GWAS statistics for pulse pressure (Evangelou et al. 2018); and GWAS statistics for large artery stroke (Dichgans et al. 2014). Additional information about genomic region is at the bottom, containing the putative enhancer where rs4304924 resides and the surrounding genes. Tracks display H3K27ac, ATAC-seq, ERG binding, RELA binding, and RNA-seq expression from HAECs. (B) POU4F1 gene expression in HAECs by microarray (Probe set ID: 206940_s_at) and three arterial tissues from GTEx compared between genotypes at rs4304924. (C) RPKM-normalized H3K27ac tags in HAECs surrounding the rs4304924 SNP by genotype. (D) PWM for the CRX/GSC motif and the motif sequences created by the two alleles at rs4304924. (E) STARR-seq allele-specific expression (RNA/DNA ratio) for rs4304924 across the different treatment points.
