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Fig. 6 | Genome Medicine

Fig. 6

From: Biological basis of extensive pleiotropy between blood traits and cancer risk

Fig. 6

Regulatory features and relative overexpression of pleiotropic RNYs. a Density distribution of the pleiotropic SNPs identified nearby (± 50 kb) RNY TSSs. The 5′ and 3′ 50-kb regions are delimited by vertical dashed lines. Genomic regulatory features found to be significantly enriched in each region are denoted in boxes. b Unsupervised hierarchical clustering of the average expression level of each pleiotropic and non-pleiotropic RNY transcript (as depicted in the inset) across normal tissue from TCGA (study acronyms are depicted on the Y-axis). c Scatter plot of the expression correlation between the pleiotropic and non-pleiotropic RNY signatures across normal tissue from TCGA. The PCC and corresponding significance (p) are indicated. d Box plots showing of the pleiotropic and non-pleiotropic RNY signature scores across primary immune cell populations isolated from whole blood. The two-way ANOVA comparisons and significance (p) are indicated. e Scatter plot of the correlation (PCC and p are indicated) between the pleiotropic or non-pleiotropic RNY expression signatures and age at diagnosis of cancer, using the corresponding normal tissue TCGA data. f Density distribution of the PCCs between equivalent random sets of microRNAs and age at diagnosis of cancer, using the normal tissue TCGA data (n = 593). The observed PCC for the pleiotropic RNY expression signature is indicated by an arrow, and the significant PCC tail and pempirical threshold are denoted. g Scatter plot of the correlation (PCC and p are indicated) between the pleiotropic or non-pleiotropic RNY signatures and age at diagnosis of cancer, using primary tumor TCGA data. h Scatter plot of the expression correlation between the pleiotropic and non-pleiotropic RNY signatures across TCGA primary tumors. The PCC and corresponding significance (p) are indicated. i Violin plot of the expression level of the pleiotropic and non-pleiotropic RNY signatures in blood plasma from cancer patients and healthy individuals, as indicated on the X-axis. Significance of the Wilcoxon rank test comparing the two signatures in each setting is shown

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