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Expanded chromatin accessibility mapping explains genetic variation associated with complex traits in liver

GSE277774 Homo sapiens (human) ChIP-seq / ATAC-seq (genome binding and open chromatin) 189 samples Submitted 2025/04/11 Platform GPL24676
At a glance

ChIP-seq / ATAC-seq (genome binding and open chromatin) · human · 189 samples

What it is
ChIP-seq / ATAC-seq (genome binding and open chromatin)Where proteins bind the genome, or which regions are open and active.
Organism
Homo sapiens (human)
Samples
189 samples: 189 samples, each with a distinct title — no replicated groupsGroups are read from the sample names, not from the paper. Check the list below.
Data you can get
A processed table (series matrix) and supplementary files from NCBI; the raw sequencing reads from ENA. Which of these hold counts depends on the study, so check the file list.
Paper
Expanded Chromatin Accessibility Mapping Explains Genetic Variation Associated with Complex Traits in LivermedRxiv : the preprint server for health sciences · 2025
Summary (written by the submitters)
Genome-wide association studies (GWAS) have identified thousands of genomic loci associated with a variety of common, complex human traits. The contribution of genetic variants to gene expression regulation has been well studied, supporting the idea that gene expression plays a causal role at some complex trait-associated loci. However, many current studies have not comprehensively investigated the impact of genetic variation on chromatin accessibility at a large scale within a single tissue.
Read the full summary ↓
Genetic variants associated with differences in chromatin accessibility, known as chromatin accessibility quantitative trait loci (caQTLs), are major contributors to gene expression differences and GWAS signals. We assessed chromatin accessibility in 189 human liver tissue samples using ATAC-seq and identified over two million accessible chromatin regions enriched for gene regulatory characteristics. We integrated chromatin accessibility and genotype data from 175 samples and identified 14,076 caQTLs. Using publicly available blood lipid GWAS data, we found 157 loci where the colocalization of caQTLs, expression quantitative trait loci (eQTLs), and GWAS signals generated specific molecular hypotheses about causal regulatory elements, affected genes, and, in some cases, transcription factors, resolving these associations to single-nucleotide resolution. We performed a comprehensive analysis of the GWAS signals that remain without a proposed mechanism beyond liver caQTLs and eQTLs. After incorporating additional potential regulatory mechanism data, we found that approximately 26% of blood lipid GWAS signals remain without a proposed mechanism. Overall, our results demonstrate the benefits of integrating multiple datasets to improve our understanding of GWAS signals while emphasizing the need for additional experiments to fully characterize them.
Published in
Expanded Chromatin Accessibility Mapping Explains Genetic Variation Associated with Complex Traits in Liver
Wenz BM, Dudek MF, Ramdas S et al. · medRxiv : the preprint server for health sciences 2025 · PMID 41001483 · doi:10.1101/2025.09.15.25335593
This dataset
Download · which file do I need?

Direct links to NCBI and ENA, no account and no request form. Pick by what you want to do: take the small processed table to look, the supplementary files to re-analyse, or the original raw data to start over.

1 · Just have a look

Processed table

The series matrix: one table of values per sample as the submitters processed it. The smallest download, and it opens in Excel or R. Start here to see what the data look like.

2 · Re-analyse it

Supplementary files

The count tables and other files the authors uploaded. Take only the samples you need, or the whole study as GSE277774_RAW.tar (it can run to tens of gigabytes).

3 · Start from the raw reads

Raw sequencing reads

The original FASTQ files, straight from the sequencer, held at ENA. Large, and you align them yourself, so only choose this if you need to re-process the study from scratch.

What the files usually look like: Look for peak files (.bed, .narrowPeak) and signal tracks (.bigWig) among the supplementary files; the raw reads are on ENA.

Also filed as BioProject PRJNA1164158 and SRA study SRP534190. Searching any of these in the dataset finder brings you back here.

Study design
189 samples, each with a distinct title — no replicated groups

Any grouping that defines a comparison lives in the sample characteristics, which GEO records separately from the titles.

How we read this: Read from 189 sample titles: 189 distinct titles with little repetition. These groups are guessed from the sample names, not taken from the paper, so check them against the sample list below before relying on them.

Samples in this study

+ 149 more — browse all 189 samples with per-sample file links →

Datasets on a similar topic

Search all human ChIP / ATAC / CUT&Tag datasets in GEO →

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