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. 2021 Feb 8;11:3285. doi: 10.1038/s41598-021-81836-x

Figure 4.

Figure 4

Functional annotation of 173 single nucleotide polymorphisms (SNPs) found to be in linkage disequilbrium (r2 >  = 0.6) with the four independent SNPs showing genome-wide significant association with podoconiosis. (A) Distribution of functional consequences of SNPs in genomic risk loci (B) Distribution of combined annotation dependent depletion (CADD) score for SNPs in genomic risk loci. A score greater than 12.37 indicates deleterious SNPs. (C) Distribution of RegulomeDB score for SNPs in genomic risk loci. A score less than 4 indicates regulatory function. (D) Minimum chromatin state for 127 tissue/cell types for SNPs in genomic risk loci. A score less than 7 indicates open chromatin state, indicating higher accessibility.