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. Author manuscript; available in PMC: 2014 Nov 7.
Published in final edited form as: Cell. 2013 Oct 10;155(4):10.1016/j.cell.2013.09.053. doi: 10.1016/j.cell.2013.09.053

Figure 4. Disease-associated DNA sequence variation in super-enhancers.

Figure 4

A) Catalogue of single nucleotide polymorphisms (SNP) linked to phenotypic traits and diseases in genome wide association studies (GWAS). (left) Pie chart showing percentage of SNPs associated with the highlighted classes of traits and diseases. (middle) Distribution of trait-associated SNPs in coding and non-coding regions of the genome. (right) Location of all non-coding trait-associated SNPs relative to all enhancers identified in 86 human cell and tissue samples. X-axis reflects binned distances of each SNP to the center of the nearest enhancer. SNPs located within enhancers are assigned to the 0 bin.

B) Radar plots showing the density of trait-associated non-coding SNPs linked to the highlighted traits and diseases, in the super-enhancer domains identified in 12 human cell and tissue types. The center of the plot is 0, and a colored dot on the respective axis indicates the SNP density (SNP/10MB sequence) in the super-enhancer domains of each cell and tissue type. Lines connecting the density values to the origin of the plot are added to improve visualization.

See also Figure S4.

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