Figure 6 ∣. Association of fetal and adult human cell types with complex traits and diseases.
A) Heatmap showing enrichment of risk variants associated with disease and non-disease traits from genome wide association studies in human cell type-resolved cCREs. Cell type-stratified linkage disequilibrium score regression (LDSC) analysis was performed using GWAS summary statistics for 240 phenotypes. Total cCREs identified independently from each fetal and adult cell type were used as input for analysis. P-values were corrected using the Benjamini Hochberg procedure for multiple tests. FDRs of LDSC coefficient are displayed. 66 selected traits were highlighted on the left, with PubMed identifiers (PMIDs) or “UKB”, indicating summary statistics downloaded from the UK Biobank, enclosed in parentheses. Numerical results are reported in Table S4. B) Dot plots showing significance of enrichment for selected traits from panel A within cCREs from 222 fetal and adult cell types. Each circle represents a cell type. Large circles pass the cutoff of FDR < 1% at −log10(P) = 3.55. The top 3 most highly associated cell types are labeled for each trait. Comprehensive data are provided in Table S4.