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https://github.com/jeffreypullin/qtl-zoo

A glossary/zoo of QTL types!
https://github.com/jeffreypullin/qtl-zoo

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A glossary/zoo of QTL types!

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# The QTL Zoo

This document aims to provide a reference of the many types of QTL (Quantative Trait Loci) that are used in the literature:

* eQTL: expression QTL
* caQTL: chromatin accesibility QTL
* pQTL: protein QTL
* csQTL: cell state QTL [^1]
* csaQTL: cell state abundance QTL [^2]
* int-eQTL: disease-state interaction eQTL [^3]
* mQTL: methylation QTL
* mQTL/metQTL: metabolite QTL
* haQTL: histone acetylation QTL
* miQTL: microRNA QTL
* fpQTL: footprint QTL [^4]
* n-eQTL: nuclear eQTL [^5]
* c-eQTL: cellular eQTL [^5]
* pcQTL: cis-principal component eQTL [^6]

## References

[^1]: Kluzer, A., Marioni, J. C. & Morgan, M. D. Milo2.0 unlocks population genetic analyses of cell state abundance using a count-based mixed model. 2023.11.08.566176 Preprint at https://doi.org/10.1101/2023.11.08.566176 (2023).

[^2]: Rumker, L. et al. Identifying genetic variants that influence the abundance of cell states in single-cell data. 2023.11.13.566919 Preprint at https://doi.org/10.1101/2023.11.13.566919 (2023).

[^3]: Natri, H. M. et al. Cell type-specific and disease-associated eQTL in the human lung. 2023.03.17.533161 Preprint at https://doi.org/10.1101/2023.03.17.533161 (2023).

[^4]: Dude, F. M. et al. Characterization of non-coding variants associated with transcription factor binding through ATAC-seq-defined footprint QTLs in liver. Preprint at https://doi.org/10.1101/2024.09.24.614730 (2024).

[^5]: Sakaue, S. et al. Early and late RNA eQTL are driven by different genetic mechanisms. Preprint at https://doi.org/10.1101/2025.02.24.639351 (2025)

[^6]: Lawrence, K. et al. Focus on single gene effects limits discovery and interpretation of complex trait-associated variants. Preprint at https://doi.org/10.1101/2025.06.06.658175 (2025)