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. Author manuscript; available in PMC: 2013 Sep 12.
Published in final edited form as: Science. 2012 Sep 5;337(6099):1190–1195. doi: 10.1126/science.1222794

Fig. 2. Candidate regulatory roles for GWAS SNPs.

Fig. 2

(A) GWAS variant associated with platelet count is connected with the JAK2 gene (myeloproliferative disorders) 222 kb away. Below, ChlA-PET tags (36) validate direct chromatin interactions between this DHS and the JAK2 promoter; red tags demonstrate an interaction between these DHSs. (B) Proportion of DHSs harboring GWAS variants that can be linked to target promoters at the indicated distance. (C) Examples of allele-specific DNase I sensitivity in cell types derived from heterozygous individuals for GWAS variants that alter TF recognition motifs within DHSs (also see table S9). Each cell type track shows DNase I cleavage density scaled by allelic imbalance at the GWAS variant and colored by variant nucleotide (blue = C, green = A, yellow = G, red = T). Total reads from each allele are also shown.