Extended Data Fig. 3: Validation of CD8⁺ T cell-type-specific eRegulons related to two lymphocyte traits using an independent PBMC single-cell multiomic dataset.

a. UMAP embedding of seven immune cell types from an independent PBMC dataset. The dataset contains monocytes (n = 3,546), CD4⁺ T cells (n = 3,209), CD8⁺ T cells (n = 2,022), B cells (n = 854), NK cells (n = 477), mDCs (n = 177), and pDCs (n = 108). b. Validation of CD8⁺ T cell-type-specific eRegulons associated with two lymphocyte traits (lymphocyte percent and count). ** denotes P_CTS < 0.05, P_GRS < 0.05, and P_TRS < 0.01; * denotes P_CTS < 0.05, P_GRS < 0.05, and P_TRS < 0.05; # denotes P_CTS < 0.05, P_GRS < 0.1, and P_TRS < 0.01. Circle size represents the TRS. Significance was assessed by a Monte-Carlo permutation test (one-sided, upper tail; n = 1,000 iterations; no multiple correction). c. Heatmap displaying eRegulons that contain OpenTargets-prioritized genome-wide significant SNPs associated with lymphocyte count and lymphocyte percent. d. Enrichment of seven core eRegulons with top-ranked 1,000 genes associated with both lymphocyte traits from OpenTargets, respectively. The x-axis shows the overlap ratio (fraction of eRegulon genes overlapping with OpenTargets-prioritized lymphocyte-related genes), and the y-axis represents statistical significance as –log10(P value) from a hypergeometric test. Bubble size indicates the size of each eRegulon. e. Heatmap exhibiting the significance of S-MultiXcan-identified risk genes within the seven significant eRegulons. The color bar indicates the -log10-transformed P- values, and asterisks denote significance thresholds (* P < 1e-3, ** P < 1e-5, and *** P < 1e-8).

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