Fig. 2: Genomic context of the association signals observed in the GWAS in the discovery cohort.
From: Identification of risk loci for primary aldosteronism in genome-wide association studies
The regional association plots were generated using LocusZoom on imputed data and display surrounding genes (genome build 37). The two different loci on chromosome 1 (a) and chromosome 13 (b) confirmed in the meta-analysis are represented; dot color indicates linkage disequilibrium of each variant with the highlighted lead variant in common between discovery and replication cohorts (purple diamond). c Genome browser view of public ATAC-seq and ChIP-seq signals produced by the ENCODE consortium from adrenal gland tissue on chromosome 8 (region 142,810,559–143,017,843, hg38 build), chromosome 1 (region 10,620,000–10,860,000) and chromosome 13 (region 31,100,000−32,000,000). Top tracks (in green) are ATAC-seq signals from four donors (two females and two males). The lower tracks are ChIP-seq results from three different donors (one female and two males). For each sex, we show tracks corresponding to three histone marks, known to be associated with regulatory elements: H3K4me3 (blue), H3K27ac (purple), and H3K4me1 (orange). The black horizontal bar delimitates the regions in linkage disequilibrium, found associated with PA. Vertical dashed lines indicate the position of SNPs identified in this study.
