Fig. 4.

Overview of SNPs in LD with rs10979182 overlaying four putative enhancer elements in the 9q31.2 locus. a The purple bar demonstrates the location of the rs10979182 LD block (r² > 0.8) in the ~ 1 Mb gene desert between two gene clusters, shown by UCSC genes [40]. b The 90 SNPs in LD with rs10979182 are denoted by purple lines and H3K4me1, and H3K27ac ChIP-seq tracks from ENCODE are shown as peaks in GM12878 (red), H1-hESC (yellow), HSMM (green), HUVEC (light blue), K562 (dark blue), NHEK (purple) and NHLF (pink) cells [41]. The index SNP, rs10979182, is shown as a green arrow, and the SNP of interest, rs6477612, is shown as a black arrow. c Zoom-in of the putative enhancers 2–4 showing SNPs overlaying ENCODE regulatory marks: H3K4me1 and H3K27ac ChIP-seq (NHEK), DNase clusters and transcription factor ChIP clusters across 91 cell types as grey/black bars, where darkness indicates signal strength. For ChIP clusters, green lines indicate the highest scoring site of a FactorBook-identified canonical motif for the corresponding factor. The figure was made with the UCSC Genome Browser, GRCh37/hg19 [42]