Fig. 3

Link of pleiotropism with telomere length regulation and genomic hotspots. a Pie charts showing the contribution of pleotropic variants in telomere length-associated gene loci across the cancer studies. The proportion of variants associated with breast cancer caused by BRCA1 pathological variants and/or TNBC is denoted by solid triangles, as indicated in the inset. b Genomic diagram showing the relative position of the pleiotropic variants (dots) across human chromosomes 1–22 (X-axis) and cancer-risk studies (Y-axis). c Graph showing the identified pleiotropic hotspots across human chromosomes 1–22. Results are shown for the regions including associations with > 2 cancer types and corresponding to genomic bins of 1, 3, and 5 Mb, as indicated in the inset. The hotspots including > 10 cancer trait associations are denoted by candidate gene names. d Histograms showing the percentage of the 6p21-p22 pleiotropic variants identified as cis-eQTL in whole blood (left panel) or immortalized lymphocytes (right panel) of the corresponding 6p21-p22 genes (X-axis). The direction of the eQTL effect is defined by the slope color (inset). The indicated genes showed significant enrichment (FDR-adjusted p < 0.05) of pleiotropy-eQTL correspondences relative to equivalent randomly chosen variants in 1000 gene loci expressed in all major immune cell types