Fig. 2

SLE-associated DAP1 eQTLs in immune cells. a MJ network analysis on the top three most common DAP1 haplotypes illustrates the position of six (blue color) potentially regulatory variants with strong RegulomeDB score and eQTL effects. MJ network nomenclature is the same as described earlier in Fig. 1. Encircled SNPs (SNP8, SNP4, and SNP1) indicate the variants with the strongest regulatory annotations based on ENCODE data and eQTL effects. b–d UCSC genome browser illustrates histone modification, transcription factor binding tracks based on ENCODE’s ChIP-Seq data, and UCSC functional annotations for SNP8, SNP4, and SNP1. e, f DAP1 eQTLs for rs2930047 SNP in human monocyte-derived macrophages (MDMs) from the present study and lymphoblastoid cell lines from the 1000 genomes study, respectively. g, h Effect of allele dosage on DAP1 gene expression in different combinations of protective and risk alleles in lymphoblastoid cell line (LCL) samples from the 1000 Genome Project (g) and MDMs from the present study (h). Median value of DAP1 expression in each diplotypes is shown underneath in parentheses