Fig. 6: GWAS variants located in lineage-selective SEs. | Cell Death & Disease

Fig. 6: GWAS variants located in lineage-selective SEs.

From: Lineage-selective super enhancers mediate core regulatory circuitry during adipogenic and osteogenic differentiation of human mesenchymal stem cells

Fig. 6

A Enrichment results of eBMD and WHRadjBMI GWAS variants in the functional regions of two lineage-selective SEs sets. Odds ratios are presented with their 95% CI. Enrichments were calculated using Fisher’s exact test (two-sided). B, C Bar plots display mean values ± S.D. of FPKM and the statistical difference; *P < 0.05, **P < 0.01, ***P < 0.001, ns: not significant. D Schematic diagram displays the mechanism hypothesis through which the GWAS variants function. E Genome browser plot displays a lineage-selective SE in osteoblasts that regulate ALPL. Dashed line indicates the TSS of ALPL. The arc with arrow links the TSS and the functional region within SE that predicted to target it. An eBMD associated GWAS variant, rs3767150 reside in one of the functional regions of this SE. F The 11-mer gkm-SVM scores across rs3767150 for SREBF1. G The expression correlation of SREBF1 and ALPL in osteoblast (GSE15678). H The violin plot displays the expression of ALPL in samples with different genotype of rs3767150 from GTEx liver tissue.

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