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Identification of target genes and regulatory networks for bone mineral density GWAS loci through systematic targeting and inhibition [hFOB ATAC-seq]

GSE318537 Homo sapiens (human) ChIP-seq / ATAC-seq (genome binding and open chromatin) 16 samples Submitted 2026/02/13 Platform GPL20795
At a glance

ChIP-seq / ATAC-seq (genome binding and open chromatin) · human · 16 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
16 samples: 4 × hFOB cells, Day 0, vs 4 × hFOB cells, Day 2, vs 4 × hFOB cells, Day 4, vs 4 × hFOB cells, Day 10,Groups 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
Identification of target genes and regulatory networks for bone mineral density GWAS loci through systematic targeting and inhibitionbioRxiv : the preprint server for biology · 2026
Summary (written by the submitters)
Osteoporosis is characterized by low bone mineral density (BMD) and elevated fracture risk. Most BMD-associated GWAS variants lie in noncoding regions, complicating efforts to identify causal genes and mechanisms. To overcome this variant‑to‑function challenge, we developed STING‑seq, a framework integrating biobank‑scale GWAS with single‑cell CRISPR inhibition (CRISPRi) screening to directly connect noncoding cis‑regulatory elements (CREs) to their target genes.
Read the full summary ↓
Applied to human fetal osteoblast (hFOB) cells across osteogenic differentiation, STING‑seq linked 86 CREs to 71 target genes at BMD loci. Arrayed CRISPRi and activation validated key CRE–gene relationships, including long‑range enhancers regulating CXCL12 (over 500 kb apart). We further uncovered trans‑regulatory networks and characterized the DAP3–YY1AP1 bidirectional promoter, demonstrating a role for DAP3 in mineralization via mitochondrial pathways. Together, these findings provide mechanistic insight into how noncoding GWAS variants shape osteoblast activity and highlight the genes and pathways that mediate genetic effects on BMD.
Published in
Identification of target genes and regulatory networks for bone mineral density GWAS loci through systematic targeting and inhibition
Kahlani M, Mesner L, Madhu V et al. · bioRxiv : the preprint server for biology 2026 · PMID 41757073 · doi:10.64898/2026.02.11.705362
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 GSE318537_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 PRJNA1419191 and SRA study SRP674895. Searching any of these in the dataset finder brings you back here.

Study design
4 × hFOB cells, Day 0, vs 4 × hFOB cells, Day 2, vs 4 × hFOB cells, Day 4, vs 4 × hFOB cells, Day 10,

Supports a between-group comparison across 16 samples.

How we read this: 4 replicated groups read from 16 sample titles; they account for 16 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
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