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. 2019 Nov 29;10(12):984. doi: 10.3390/genes10120984

Figure 5.

Figure 5

Histone marks, representative transcription factor binding sites, chromatin states, and location of informative SNPs on the INSR locus (a) Location of histone marks on the INSR locus. The X-axis represents the INSR gene with the promoter on the right, indicated by a black arrow. The Y-axis represents the number of tissues with the particular histone mark. Activation marks including H3K4me3, H3K27ac, and H3K9ac overlap at the promoter and a site with promoter-like features in the center of the gene, in intron 2. These marks are also found in a tissue-specific pattern elsewhere on the gene. H3K36me3 marks are concentrated on the 3’ end. Data obtained from the Roadmap Epigenomics Project [108]; (b) Chromatin states shown for the INSR locus in eleven tissues. Red: active TSS, orange: active enhancer, yellow: weak enhancer, lime green: transcribed and weak enhancer, gray: repressed polycomb, white: quiescent/Low. Promoter-like regions are indicated in red and overlap with the annotated INSR promoter, as well as with a region of intron 2 that does not appear to generate significant transcriptional starts. Tissues were selected to illustrate examples of tissue-specific and universal marks. The skeletal muscle tissues are from females, and stomach tissue is specifically from smooth muscle [108] (25 state model shown). Below, green lines indicate locations of experimentally validated enhancers from whole-genome STARR-seq data in the LNCap prostate tumor cell line [108]; (c) Binding sites of Sp1, FOXA1, and HNF1A. Vertical lines indicate bound sites from ChIP-seq data. The gradient from gray to black indicates the number of tissues in which the binding event was observed (data obtained from [42,109]); (d) Significant cis eQTLs found on the INSR locus. Brackets show locations of tissue-specific clusters of eQTLs found in artery, lung, pancreas, thyroid, and whole blood. Locations of four GWAS SNPs associated with polycystic ovary syndrome, height, thyroid hormone levels, and triglycerides are indicated (data obtained from [56]).