Fig. 4: A South African map of blood regulatory variation.
From: A map of blood regulatory variation in South Africans enables GWAS interpretation
a, Proportion of lead cis-QTL variants that are unobserved in 1000 Genomes continental ancestries. The number of unique QTL variants is listed for each QTL type. b, Example of a predicted stop-gain eQTL for NIPSNAP3A unobserved in non-African ancestries (rs34856872, MAF 1000G African ancestry = 3.9%). c, Example of a predicted splice donor variant sQTL for KIF16B unobserved in 1000 Genomes (rs138620712, MAF SABR = 2.1%). Participant counts are listed in parentheses under genotype classes (0:C/C, 1:C/T, 2:T/T, 1:C/A). d, Proportion of conditionally independent cis-eQTLs stratified by index that are unobserved in either non-African or African 1000 Genomes ancestries. The significance of the difference in proportion of unobserved alleles between index 1 and 5+ eQTLs was calculated using a two-sided Fisher’s exact test. Non-African refers to East Asian, South Asian and European ancestry 1000 Genomes individuals. For boxplots—bottom whisker, Q1 − 1.5× IQR; top whisker, Q3 + 1.5× IQR; box, IQR; center, median. The P values shown for QTLs are two-sided from the linear regression model.
