eQTM (expression quantitative trait methylation) Atlas: a comprehensive resource of over 11 million DNA methylation-gene expression associations through across 11 tissues and 4 diseases

Sriram, A.; Kim, S.; Caldino Bohn, R.; Chen, W.; Liu, T.; Yue, M.; Jain, N.; Pierce, B.; Joehanes, R.; Levy, D.; Patin, E.; Quintana-Murci, L.; Park, H. J.; Celedon, J. C.

doi:10.64898/2026.06.07.730721

bioRxiv · 10.64898/2026.06.07.730721

eQTM (expression quantitative trait methylation) Atlas: a comprehensive resource of over 11 million DNA methylation-gene expression associations through across 11 tissues and 4 diseases

Sriram, A.·Kim, S.·Caldino Bohn, R.·Chen, W.·Liu, T.·Yue, M.·Jain, N.·Pierce, B.·Joehanes, R.·Levy, D.·Patin, E.·Quintana-Murci, L.·Park, H. J.·Celedon, J. C.

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Abstract

MotivationEpigenome-wide association studies (EWAS) have identified numerous DNA methylation (DNAm) CpG sites associated with complex traits and diseases, but interpretation of those CpG sites remains challenging because in EWAS, CpGs are mostly linked to nearby genes based only on genomic proximity. Expression quantitative trait methylation (eQTM) analyses connect DNAm CpGs with statistically associated gene expression levels. However, a comprehensive, searchable resource integrating eQTMs across diverse tissues and disease contexts has been lacking. ResultsWe developed the eQTM Atlas, a web-based resource that manually curates more than 11 million DNAm-gene expression associations from eight cohorts, covering 11 tissue types, four broad disease contexts, 173,886 unique CpG probes and 20,231 unique genes. The Atlas supports gene- or CpG-searches by tissue or disease type and finding associated CpG or genes, visualization of cis- and trans-eQTMs through genome browser, heatmap interfaces across various tissues, and cohort-level data downloads. By integrating eQTM results with EWAS resources, the eQTM Atlas enables users to connect disease- or trait-associated CpGs to statistically associated genes rather than relying solely on proximity-based gene annotation, supporting functional interpretation of EWAS findings and generation of disease-specific regulatory hypotheses. Availability and implementationThe eQTM Atlas is freely available at https://shiny.crc.pitt.edu/eqtm_browser/. The web interface is implemented in R Shiny and hosted through the University of Pittsburgh Center for Research Computing (CRC). Source code is available at https://github.com/ads303/eQTM-Atlas.

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Sriram, A., Kim, S., Caldino Bohn, R., Chen, W., Liu, T., Yue, M., Jain, N., Pierce, B., Joehanes, R., Levy, D., Patin, E., Quintana-Murci, L., Park, H. J., Celedon, J. C.. 2026-06-10. eQTM (expression quantitative trait methylation) Atlas: a comprehensive resource of over 11 million DNA methylation-gene expression associations through across 11 tissues and 4 diseases. https://doi.org/10.64898/2026.06.07.730721

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