Supplementary Figure 3: Genomic distributions and minor allele frequencies of raQTLs. | Nature Genetics

Supplementary Figure 3: Genomic distributions and minor allele frequencies of raQTLs.

From: High-throughput identification of human SNPs affecting regulatory element activity

Supplementary Figure 3: Genomic distributions and minor allele frequencies of raQTLs.

a. Frequencies of raQTLs in K562 cells (n=19,237; dark color) or matching control SNPs (n=19,237; pale color) among all non-exonic SNPs within 100 kb of TSSs of loss-of-function tolerant genes or loss-of-function intolerant genes (Lek et al. 2016, Nature 536, 285-291). b. Same as (a) but for HepG2 cells (n=14,183). c. Distributions of minor allele frequencies according to the 1000 Genomes Project (1000 Genomes Project Consortium, 2015. Nature 526, 68-74) for raQTLs (dark color) and matched control SNPs (pale color) in K562 cells. P-values are obtained with a Wilcoxon rank-sum test d. Same as (c) but for HepG2.

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