Extended Data Fig 2∣. GWAS Implicates rs2887399 as a Modifier of Clonal Expansion Rate.
A. The distributions of the four conditions – DNMT3A and TET2 mutant clones stratified by homozygous genotype of rs2887399. The y-axis indicates the density of the distributions and the x-axis indicates the log10 founding censored passengers, which are the simulated equivalent to the singleton mutations observed in the real data analysis. Simulated DNMT3A mutations out-compete TET2 when rs2887399 is set to the protective T/T allele even though its fitness is unchanged by rs2887399. B. The top panel includes the -log10 pvalues from both the PACER GWAS and TCL1A cis-eQTLs in whole blood from GTEx v829. The GWAS p-values are estimated with SAIGE. In the bottom panel, posterior probability of colocalization from COLOC30 identifies rs2887399 as the likely shared causal variant. C. UMAP plot of scRNA-seq data from immune cells in the Human Cell Atlas31. TCL1A expression is highlighted on the bottom plot. UMAP plot was generated in the EMBL-EBI Single Cell Expression Atlas.