ArticleCell genomics2026
Impact of disease-associated chromatin accessibility QTLs across immune cell types and contexts.
Article in Cell genomics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed.
- Article
- Single-cell analysis of chromatin accessibility in the human intestine identifies regulatory programs and clarifies genetic associations in Crohn's disease.Nature genetics · 2026Article
- Identifying independent causal cell types for human diseases and risk variants.Cell genomics · 2026Article
- Post-genome-wide association study variant-to-function challenges in asthma research.The Journal of allergy and clinical immunology · 2026Review
- Translating genome-wide association studies at multiple scales: Drug target prioritization, cellular architectures, and organ imaging.Cell genomics · 2026Review
- Decoding common and rare noncoding variant effects across cellular and developmental contexts.Nature genetics · 2026Article
- A scalable framework for single-cell eQTL mapping uncovers genetic regulators of meat production traits in pigs.Journal of animal science and biotechnology · 2026Article
- Decoding Immune Regulation: From Genetic Variation to Mechanism Through Single-Cell Genomics.Immune network · 2026Review
- Autoimmune non-coding variants perturb transcription factor-cofactor complex assembly linked to enhancer activity.bioRxiv : the preprint server for biology · 2026Article
- Functionally informed cis and trans proteome-wide association studies prioritize disease-critical genes.Research square · 2026Article
- Integrating Genetics and Environment to Find Causal Mechanisms for Multiple Sclerosis.European journal of immunology · 2026Review
- Widespread gene-environment interactions shape the immune response to SARS-CoV-2 infection in hospitalized COVID-19 patients.Nature communications · 2026Article
- Functionally informed cis and trans proteome-wide association studies prioritize disease-critical genes.medRxiv : the preprint server for health sciences · 2026Article
- Early and late RNA eQTL are driven by different genetic mechanisms.Nature communications · 2026Article
- Integrating multi-omic QTLs and predictive models reveals regulatory architectures at immune related GWAS loci in CD4+ T cells.medRxiv : the preprint server for health sciences · 2026Article
- Impact of disease-associated chromatin accessibility QTLs across immune cell types and contexts.Cell genomics · 2026Article
- Circulating chromatin reveals the effects of disease-associated variants on gene regulation.bioRxiv : the preprint server for biology · 2025Article
- Efficient count-based models improve power and robustness for large-scale single-cell eQTL mapping.medRxiv : the preprint server for health sciences · 2025Article
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11 authors.
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Abstract
Only one-third of immune-associated genome-wide association study (GWAS) loci colocalize with expression quantitative trait loci (eQTLs), leaving most mechanisms unresolved. To address this, we created a unified single-cell chromatin accessibility (scATAC) map of ∼280,000 peripheral immune cells from 48 individuals, including 20 COVID-19 patients. Topic modeling of scATAC data identified continuous cell states and revealed disease-relevant cellular contexts. We identified 37,390 chromatin accessibility QTLs (caQTLs) at 10% false discovery rate and observed extensive sharing of caQTLs, with <20% confined to a single context. Notably, caQTLs explained ∼50% more GWAS loci compared to eQTLs, nominating putative causal genes for some unexplained loci. Yet most GWAS-colocalizing caQTLs lacked eQTL support, limiting causal inference from chromatin data alone. Thus, while caQTLs can improve GWAS interpretation, robust mechanistic insights require integration with gene expression and other functional evidence. Our work underscores that cellular context is critical for regulatory variant interpretation and emphasizes the need to map genetic effects in disease-relevant cell states.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.