Fig. 1: Genetic and epigenomic analysis of rs2431697. | Nature Communications

Fig. 1: Genetic and epigenomic analysis of rs2431697.

From: SLE non-coding genetic risk variant determines the epigenetic dysfunction of an immune cell specific enhancer that controls disease-critical microRNA expression

Fig. 1: Genetic and epigenomic analysis of rs2431697.The alternative text for this image may have been generated using AI.

a Trans-ancestral meta-analysis in discovery and replication cohorts identifies 95% credible sets consisting of two markers: rs2431697 and rs2431098. Discovery meta-analysis uses samples in Supplementary Figs. 1 and 5. Replication meta-analysis is from summary statistics of trans-ancestral meta-analysis of summary statistics using the METAL Z2 approach weighted by sample size. Each data point represents a variant in its genomic position (GRCh37/hg19) and the strength of association with SLE. Strength of association is assessed as the −log10 of the P-value. Credible set membership is based on the calculation of Bayes Factors from P-values as implemented in LocusZoom (http://my.locuszoom.org). Variants in green represent members of the 95% credible set, variants in gray represent variants that are not in the 95% credible set. b ChIP-seq signal for H3K4me1 and H3K27Ac from Roadmap and ATAC-seq signal detected in our lab reveals a cell-type-specific regulatory element at the rs2431697 locus. chr, chromosome. See also Supplementary Fig. 1–8.

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