Fig. 4

Examples of eQTLs identified in fibroblast and iPSC subtypes. a The KLHL36 gene was significant in three different fibroblast subtypes but with different top eSNPs for each cell type. b The top SNP for the SIX5⁺ fibroblast cell type was rs381037 and demonstrated a significant association with KLHL36 expression in just the SIX5⁺ fibroblast cell type. c rs11604918 was a significant SNP in just the ATF1+ fibroblast cell type. d The rs11445947 SNP was the most significant eSNP for KLHL36 expression in the RXRB⁺ cell type and did not demonstrate a significant association in any other cell type. e The three top eSNPs associated with KLHL36 expression were not in linkage disequilibrium. f CPNE1 was differentially expressed in HOXC6⁺, ATF1⁺, KLF10⁺ and RXRB⁺ fibroblast cell types. g CPNE1 was a significant eGene in five of the six fibroblast subtypes. h Further, the rs3474587283-CPNE1 eQTL demonstrated striking subtype by SNP interaction. *p < 0.05; **p < 0.01; ***p < 0.001; NS non-significant