Genetic variants associated with cell-type-specific intra-individual gene expression variability reveal new mechanisms of genome regulation

This dataset contains the association summary statistics for the common variant single-cell expression quantitative trait (eQTL), variance eQTL (veQTL), dispersion eQTL (deQTL) analysis, processed genotype, covariates, and cell x gene Seurat object of the OneK1K cohort in Xue et al. 2026 (https://www.biorxiv.org/content/10.1101/2024.05.05.592598v1). Specifically, the files included are as follows: plink_genotype_merged_980_donors.zip: PLINK genotype files of 980 donors in the OneK1K cohort. Common variants with minor allele frequency (MAF) > 0.05 are included. updated_covariates_OneK1K_980_donors.zip: covariates for the QTL analysis, including sex, age, genotype PCs, and PEER factors OneK1K_TensorQTL_raw_eQTL_summary.tar.gz: full summary statistics for common variant cis eQTL mapping with a +/- 1Mb window (22 chromosomes for each of the 14 immune cell types assessed). The effect allele corresponds to the A1 in the plink bim file. OneK1K_TensorQTL_top_eQTL_summary.zip: top cis eQTL for each gene with permutated p-value and q-value correction. OneK1K_TensorQTL_raw_veQTL_summary.zip: full summary statistics for common variant cis veQTL mapping with a +/- 1Mb window (22 chromosomes for each of the 14 immune cell types assessed) OneK1K_TensorQTL_top_veQTL_summary.zip: top cis veQTL for each gene with permutated p-value and q-value correction. OneK1K_TensorQTL_raw_deQTL_summary.zip: full summary statistics for common variant cis eQTL mapping with a +/- 1Mb window (22 chromosomes for each of the 14 immune cell types assessed) OneK1K_TensorQTL_top_deQTL_summary.zip: top cis deQTL for each gene with permutated p-value and q-value correction. OneK1K_updated_14_celltypes_980_donors.RDS: Seurat cellx gene object for the OneK1K dataset, which contains 1,266,401 scRNA-seq of PBMCs from 980 individuals. Both RNA and SCT assays are included. The object is saved using Seurat_5.3.0 and SeuratObject_5.0.2. Note that 'scale.data' slot in 'SCT' assay has been removed. If you need this specific slot, please contact the authors. OneK1K_updated_14_celltypes_980_donors.h5ad: AnnData format of the OneK1K dataset. Note that it only contains the raw count data. OneK1K_pseudobulk_mean_mx.zip/OneK1K_pseudobulk_variance_mx.zip/ OneK1K_within_ind_dispersion_mx.zip: Pseudobulk expression matrix of mean, variance, and within-individual dispersion. OneK1K_pseudobulk_mx_gene_list.zip: Matched gene list for the Pseudobulk matrix per cell type If any request for additional datasets, please email us at Angli Xue (a.xue[AT]garvan.org.au) or Joseph E. Powell (j.powell[AT]garvan.org.au)