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
- 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
- caQTL: chromatin accesibility QTL
- haQTL: histone acetylation QTL
- miQTL: microRNA QTL
- fpQTL: footprint QTL 4
Footnotes
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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). ↩
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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). ↩
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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). ↩
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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). ↩