Fig. 1
Meta-analysis of BMD loci predicts cell lineage-specific functions and pathways. a Venn diagram depicting the overlap of H3K27Ac and RUNX2 ChIP-Seq peak data from human-induced mesenchymal stem cells (iMSCs) with bone mineral density (BMD)-associated SNPs (BMD-SNPs). b Top biological processes and molecular functions identified by functional enrichment analysis of RUNX2-Enh-BMD-SNPs (top panel) and Non-RUNX2-Enh-BMD-SNPs (bottom panel). # indicates the top ranking Kegg pathways. c Venn diagram depicting the overlap of H3K27Ac and PU.1 ChIP-Seq peaks from human peripheral blood monocytes and macrophages with BMD-SNPs. d Top biological processes and molecular functions identified by functional enrichment analysis of PU.1-Enh-BMD-SNPs (top panel) and Non-PU.1-Enh-BMD-SNPs (bottom panel). # indicates the top ranking Kegg pathways. e Motifs enriched in the 500 base pair (bp) regions adjacent to PU.1-Enh-BMD-SNPs and Non-PU.1-Enh-BMD-SNPs. For PU.1-Enh-BMD-SNPs, the purple plot represents PU.1, yellow—MITF, and blue—RUNX2 (negative control). For Non-PU.1-Enh-BMD-SNPs, the purple plot also represents PU.1, yellow—EHF, and green—LHX. f Orthologous temporal expression of 75 transcription factors that follow similar expression kinetics during mouse and human OC differentiation.
