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Compendium of Disease-Linked Regulatory DNA Variants and Homeostatic Transcription Factors in Epidermis [cutandrun]

GSE255543 Homo sapiens (human) ChIP-seq / ATAC-seq (genome binding and open chromatin) 310 samples Submitted 2025/07/22 Platform GPL24676
At a glance

ChIP-seq / ATAC-seq (genome binding and open chromatin) · human · 310 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
310 samples: 79 conditions, mostly in duplicateGroups 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
Disease-linked regulatory DNA variants and homeostatic transcription factors in epidermisNature communications · 2025
Summary (written by the submitters)
Identifying the regulatory noncoding single nucleotide variants (SNVs) linked to polygenic disease risk, the transcription factors (TFs) they bind, and the target genes they dysregulate is a current focus in many tissues. Massively parallel reporter gene analysis (MPRA) of 3,451 SNVs linked to risk for prevalent human skin diseases identified 355 differentially active SNVs (daSNVs).
Read the full summary ↓
daSNV target gene analysis, including genomic editing at three loci, highlighted dysregulated epidermal differentiation as a common pathomechanism. CRISPR knockout screens of 1,782 human TFs identified 108 TFs essential for epidermal homeostasis, validating new roles for ZNF217, CXXC1, FOXJ2, IRX2 and NRF1. Population sampling CUT&RUN from 310 samples of 27 homeostatic TFs across differentiation identified allele-specific binding differences enriched near epidermal homeostasis and monogenic skin disease genes, with prominent representation of SP/KLF and AP-1/2 family TFs. This resource indicates that dysregulated differentiation underlies pathogenic risk for diverse polygenic skin diseases.
Published in
Disease-linked regulatory DNA variants and homeostatic transcription factors in epidermis
Porter DF, Meyers RM, Miao W et al. · Nature communications 2025 · PMID 40998781 · doi:10.1038/s41467-025-63070-5
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 GSE255543_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 PRJNA1075324. Searching any of these in the dataset finder brings you back here.

Study design
79 conditions, mostly in duplicate
IgG Day4 1 Cn ×13 IgG Prog 1 Cn ×12 IgG Day4 2 Cn ×11 IgG Prog 2 Cn ×9 CJUN Prog 1 Cn ×5 CJUN Day4 1 Cn ×5 OVOL1 Day4 1 Cn ×5 P63 Day4 1 Cn ×5 +126 more

Supports a between-group comparison across 255 samples.

How we read this: 79 replicated groups read from 310 sample titles; they account for 255 of them. 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

+ 270 more — browse all 310 samples with per-sample file links →

Datasets on a similar topic

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

Share this dataset

Metadata from NCBI GEO, cached and refreshed periodically — the NCBI page above is authoritative. Downloads link straight to NCBI/ENA; nothing is proxied through BioTransfer.