Fig. 5: GWAS loci reveal tumor subclass-specific differences in chromatin.

a Manhattan plot of UL associations for 66,075 UL cases and 537,502 female controls (inverse-variance weighted fixed effects meta-analysis P-values in log-scale and truncated to 1e-20); selected loci are highlighted in dark blue color. The dashed line denotes the genome-wide significance threshold (P < 5e-8). b UL associated loci were enriched to active chromatin regions in myometrium and in all tumor subclasses (large dots are P < 0.05, small dots P ≥ 0.05; one-sided random resampling test). c Hierarchical clustering of the chromatin states at genome-wide significant GWAS loci: the GWAS region chromatin states had more variation between the four groups (myometrium, MED12, HMGA2, FH) than within these groups. d Representative example of the IGF2BP2 GWAS locus displaying chromatin state differences among tumor subclasses. TssA Active TSS, TssAFlnk Flanking active TSS, TxFlnk Transcr. at gene 5’ and 3’, Tx Strong transcription, TxWk Weak transcription, EnhG Genic enhancers, Enh Enhancers, ZNF/Rpts ZNF genes + repeats, Het Heterochromatin, TssBiv Bivalent/poised TSS, BivFlnk Flanking bivalent TSS/Enh, EnhBiv Bivalent enhancer, ReprPC Repressed Polycomb, ReprPCWk Weak repressed Polycomb, Quies Quiescent/low. Source data are provided as a Source Data file.