Extended Data Fig. 4: Associations of SVA F1 insertion and nearby variants to expression of ASIP in skin and tibial nerve.
From: A sequence of SVA retrotransposon insertions in ASIP shaped human pigmentation
a, ASIP gene expression in GTEx tibial nerve samples (n = 532), stratified by SVA F1 insertion genotype. Tibial nerve was the only other tissue that appeared to have evidence of the same eQTL. TPM, transcripts per million. b, Local association plot for ASIP gene expression in tibial nerve samples (n = 532) in the region 32.5 Mb to 37.5 Mb on chromosome 20. Association strengths track with linkage disequilibrium with the SVA F1 insertion (yellow-to-purple shading), indicated by the large purple dot. c, Conditional association plot for ASIP gene expression in GTEx skin (not sun-exposed, NSE) samples (n = 517) after including SVA F1 genotype as a covariate. d, As in c, but for skin (sun-exposed, SE) samples (n = 605). e, As in c, but for tibial nerve samples (n = 532).
