Data from: Impact of rare and common genetic variation on cell type-specific gene expression in human blood
收藏资源简介:
This dataset contains the association summary statistics for the common and rare variant single-cell expression quantitative trait (eQTL) analysis of TenK10K Phase 1 (https://www.medrxiv.org/content/10.1101/2025.03.20.25324352v1). Briefly, the files included are as follows: common_variant_gene_level_results_with_annotated_fails.zip: gene-level results (top variant only) for common variant (MAF>=1%) cis eQTL mapping with a +/- 100kb window (one file for each of the 28 immune cell types assessed) - genes for which there wasn't a convergence issue and could not be assessed are annotated as such at the end of each file common_all_cis_pvalues_100kb.zip: full summary statistics for common variant cis eQTL mapping with a +/- 100kb window (one file for each of the 28 immune cell types assessed) partt{1-7}_common_all_cis_pvalues_1Mb.zip: full summary statistics for common variant cis eQTL mapping with a +/- 1Mb window (one file for each of the 28 immune cell types assessed; split across 7 zipped folders because of size) rare_variant_gene_level_results.zip: rare variant gene-level results, including SKAT and burden test results with three sets of weights when testing for the effects of all rare (MAF<1%) cis variants within a +/- 100kb window around the gene rare_variant_gene_level_results_functional_annotations.zip: equivalent to the above but results when including variants that are annotated to be functional or in open chromatin regions - note that this is for 26 cell types only because for 2 we did not have sufficient scATAC-seq counts for the open chromatin annotation rare_all_cis_pvalues_100kb_single_variant_test.zip: full single-variant test for rare variants cis eQTL mapping with a +/- 100kb window (one file for each of the 28 immune cell types assessed) susie_summary.zip: fine-mapping results using SuSie based on the 100kb common variant sc-eQTL results. All variants included in a credible set (95% CI) are included, regardless of PIP (one file per cell type) coloc_100kb.zip: colocalisation results using COLOC based on the 100kb common variant sc-eQTL results. The files are organised by trait, cell type and chromosome. results_iscovariateoffset_true.zip: common variant results when re-running failures, using isCovariateOffset = TRUE. Both full summary statistics and gene-level results are provided, the latter with annotated the last genes that still did not converge



