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. 2023 Nov 18;14:7501. doi: 10.1038/s41467-023-43077-6

Fig. 5. Distribution of derived allele frequency (DAF) at cis-eQTLs and impact of derived alleles on the expression of SPP TWAS-significant genes.

Fig. 5

a Variants with high DAF are enriched for cis-regulatory variants. All variants and lead variants of cis-eQTLs were divided into different DAF intervals. The bar plot represents the proportion of all variants (cyan) or lead variants of cis-eQTLs (sky blue) in each DAF interval (left y-axis). The line indicates the relative ratio of the proportion of cis-eQTLs to the proportion of all variants in each DAF interval (right y-axis). A total of 13,877 lead variants were used in this analysis. Derived alleles were identified based on wild rice data (“Methods”). b High-frequency derived alleles at cis-eQTLs of SPP TWAS-significant genes tend to have a positive effect on SPP. The cis-eQTLs of SPP PAGs (left panel) and NAGs (right panel) are divided into different intervals (x-axis) according to DAF, and the y-axis represents the proportion of cis-eQTLs whose derived allele is up-regulating gene expression (red) or down-regulating gene expression (blue). The numbers at the top of the bars indicate the number of TWAS significant genes containing cis-eQTL in each interval. Source data are provided as a Source Data file.