Fig. 2: rs4728142 affects the activity of a promoter-like enhancer adjacent to IRF5 promoter.

a Assay of Transposase Accessible Chromatin sequencing (ATAC-seq), and H3K27ac, H3K4me1, and H3K4me3 Chromatin immunoprecipitation followed by sequencing (ChIP-seq) signals at the interferon regulatory factor 5 (IRF5) nearby region in SC cells, a human monocyte-derived cell line with heterozygote alleles (the nonrisk allele G and the risk allele A) at rs4728142. Red dotted line denotes the rs4728142 location. Sequence location information (GRCh37/hg19) for regulatory elements (including the rs4728142-containing sequence, the rs4728142-associated upstream enhancer sequence, and the integrated sequence) used in the luciferase assays is shown at the bottom of the graph. b ChIP enrichments of H3K27ac, H3K4me1, and H3K4me3 at the rs4728142-containing region in SC cells as determined by ChIP-qPCR. c, d Luciferase reporter assays utilizing vectors harboring the rs4728142-containing sequences with different alleles (G or A) or the upstream regulatory element (Termed Flank) for enhancer (c) or promoter (d) assay in 293T and SC cells. e, f Luciferase reporter assays utilizing vectors containing the integrated sequences harboring the upstream regulatory element and rs4728142-containing sequence with different alleles (G or A) for enhancer (e) or promoter (f) assay in 293T and SC cells. pGL3-Basic vector without a promoter was used for the promoter assay, and pGL3-Promoter vector with SV40 promoter was used for the enhancer assay. Luciferase signals were normalized to renilla signals. Data are represented as the means ± standard deviations (SD), n = 3 biologically independent samples, and unpaired two-tailed Student’s t test is used to calculate P values in (b–f). Source data are provided as a Source Data file.