A collection of pulication/dataset/cohort about molecular QTL study.

ATAC-QTL (chromatin accessbility)

  • Gate, R. E., Cheng, C. S., Aiden, A. P., Siba, A., Tabaka, M., Lituiev, D., … Regev, A. (2018). Genetic determinants of co-accessible chromatin regions in activated T cells across humans. Nature Genetics, 50(8), 1140–1150. https://doi.org/10.1038/s41588-018-0156-2

hQTL (histone marker)

  • McVicker, G., van de Geijn, B., Degner, J. F., Cain, C. E., Banovich, N. E., Raj, A., … Pritchard, J. K. (2013). Identification of Genetic Variants That Affect Histone Modifications in Human Cells. Science, 342(6159), 747–749. https://doi.org/10.1126/science.1242429
  • Grubert, F., Zaugg, J. B., Kasowski, M., Ursu, O., Spacek, D. V., Martin, A. R., … Snyder, M. (2015). Genetic Control of Chromatin States in Humans Involves Local and Distal Chromosomal Interactions. Cell, 162(5), 1051–1065. https://doi.org/10.1016/j.cell.2015.07.048

mQTL (DNA methylation)

eQTL (gene expression)

  • CAGE study
    • Lloyd-Jones, L. R., Holloway, A., McRae, A., Yang, J., Small, K., Zeng, B., … Powell, J. E. (2017). The Genetic Architecture of Gene Expression in Peripheral Blood. The American Journal of Human Genetics, 100(2), 228–237. https://doi.org/10.1016/j.ajhg.2016.12.008
  • GTEx study
    • Aguet, F., Ardlie, K. G., Cummings, B. B., Gelfand, E. T., Getz, G., Hadley, K., … Montgomery, S. B. (2017). Genetic effects on gene expression across human tissues. Nature, 550(7675), 204–213. https://doi.org/10.1038/nature24277
  • Geuvadis study
    • Lappalainen, T., Sammeth, M., Friedländer, M. R., ’T Hoen, P. A. C., Monlong, J., Rivas, M. A., … Dermitzakis, E. T. (2013). Transcriptome and genome sequencing uncovers functional variation in humans. Nature, 501(7468), 506–511. https://doi.org/10.1038/nature12531
  • IHEC
    • Chen, L., Ge, B., Casale, F. P., Vasquez, L., Kwan, T., Garrido-Martín, D., … Soranzo, N. (2016). Genetic Drivers of Epigenetic and Transcriptional Variation in Human Immune Cells. Cell (Vol. 167). https://doi.org/10.1016/j.cell.2016.10.026

splicing QTL

  • Li, Y. I., van de Geijn, B., Raj, A., Knowles, D. a, Petti, A. a, Golan, D., … Pritchard, J. K. (2016). RNA splicing is a primary link between genetic variation and disease. Science, 352(6285), 600–604. https://doi.org/10.1126/science.aad9417
  • Li, Y. I., van de Geijn, B., Raj, A., Knowles, D. a, Petti, A. a, Golan, D., … Pritchard, J. K. (2016). RNA splicing is a primary link between genetic variation and disease. Science, 352(6285), 600–604. https://doi.org/10.1126/science.aad9417

ctQTL (cell-type-specific)

  • Ishigaki, K., Kochi, Y., Suzuki, A., Tsuchida, Y., Tsuchiya, H., Sumitomo, S., … Yamamoto, K. (2017). Polygenic burdens on cell-specific pathways underlie the risk of rheumatoid arthritis. Nature Genetics, 49(7), 1120–1125. https://doi.org/10.1038/ng.3885

scQTL (single-cell)

  • Ishigaki, K., Kochi, Y., Suzuki, A., Tsuchida, Y., Tsuchiya, H., Sumitomo, S., … Yamamoto, K. (2017). Polygenic burdens on cell-specific pathways underlie the risk of rheumatoid arthritis. Nature Genetics, 49(7), 1120–1125. https://doi.org/10.1038/ng.3885

allelic specific exprssion QTL

pQTL (protein)