Fig. 3: Enrichment for functional associations within UTR pG4 sequences.

a GTEx cis-eQTLs are enriched within UTR pG4 relative to the number of tested (non-eQTL) SNPs when comparing lead SNPs, high-confidence causal, nominally significant, and nominally significant in RBP-binding sites in matched UTR regions (see Supplementary Table 3 for enrichment statistics) Fisher’s exact test. Error bars represent the 95% confidence interval for the odds ratio. b Odds ratio for a cis-eQTL increasing gene expression across all cis-eQTL-tissue effects (n = 379,441, P value < 2e−16, Fisher’s exact test), where the variant affects a pG4 G-tract compared to those affecting gap sequences. Error bars represent the 95% confidence interval for the odds ratio. c Density of RBP-binding sites per kilobase of pG4 sequence compared to non-pG4 regions of the UTR (P value ≪ 2.2 × 10−16, chi-square test). Source data are provided as a Source Data file.