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. 2015 Nov 10;12(3-4):351–362. doi: 10.1900/RDS.2015.12.351

Figure 2. Genetic variants in the ANK1 genomic locus and their associated phenotypes.

Figure 2

This figure is a UCSC browser snapshot of the ANK1 genomic locus, chr8:41,460,000-41,760,000 (300 kb), illustrating the relative positions of GWAS index SNPs for type 2 diabetes (T2D), hemoglobin A1c (HbA1c), forced expiratory volume in 1 second (FEV1) decline, and mean corpuscular hemoglobin concentration (MCHC) residing in introns of ANK1. The figure also shows Encyclopedia of DNA Elements (ENCODE) functional elements located near the HbA1c index SNP, rs4737009. These include an H3KMe1 histone mark, which is suggestive of a putative enhancer, and a DNase 1 hypersensitivity site, indicating a DNase-sensitive regulatory region. The zoomed-in plot shows that this HbA1c index SNP falls within 12 transcription factor binding sites (TFBS) derived from ChIP-seq experiments. These are demarcated by gray boxes. Three of these TFBS have canonical motifs for the corresponding factor (green highlight), further suggesting that the region has regulatory function impacting gene expression.