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Figure 3 | BMC Medical Genomics

Figure 3

From: On the identification of potential regulatory variants within genome wide association candidate SNP sets

Figure 3

Heatmap illustration of enrichment of LD80 SNPs in regulatory sequences. The figure displays the degrees of enrichment significance in regulatory sequences for GWAS SNPs extended to SNPs with r2 > =0.80 (LD80). The evaluated LD80 SNP sets are indicated across the horizontal axis. The y-axis indicates the cells of origin and feature data sets that reflects regulatory sequences (all from the ENCODE consortium). Vertical and horizontal side bars are colored according to tissue types and whether it is data from a cancer or normal cell line. Enrichment testing was done by comparing the true foreground overlapping count of each SNP set with each feature data to distributions of overlapping counts by randomly selected SNP sets with matching minor allele frequencies, GC content (+/-500 bps) and distance to the nearest TSSs repeated 1000 times. Multiple hypothesis-adjusted q-values were computed. The enrichment of SNP lists within each feature is colored with a transformed value from multiple hypothesis adjusted q-values: -1x(log10 (q-values +0.0001)). Highly enriched feature and SNP list pairs are colored in yellow, and non-enriched pairs are colored in red.

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