This page is for browsing eQTL (expression) and sQTL (splicing) results in the NyuWa T2T resource. Utilizing 1,085 RNA-seq datasets from individuals in the 1000 Genomes Project, we conducted population cohort study on expression regulation and splicing regulation of structural variations based on the T2T genome.
| Variant | Gene | xQTL | Splice Junction | Effect Size | P-value |
|---|---|---|---|---|---|
| 1-806227-MEI-SVA | CHM13_G0000047 ENSG00000186827 TNFRSF4 | eQTL | - | 1.7753 | 2.45e-4 |
| 1-981358-MEI-Alu | CHM13_G0000083 ENSG00000160075 SSU72 | eQTL | - | 0.2342 | 4.93e-8 |
| 1-3741372-MEI-Alu | CHM13_G0000164 ENSG00000235169 SMIM1 | eQTL | - | 0.2838 | 5.07e-5 |
| 1-6223874-MEI-Alu | CHM13_G0000194 ENSG00000131697 NPHP4 | eQTL | - | 1.1637 | 1.85e-4 |
| 1-9824847-MEI-Alu | CHM13_G0000341 ENSG00000171824 EXOSC10 | eQTL | - | -1.8874 | 1.82e-4 |
| 1-9858561-MEI-Alu | CHM13_G0000341 ENSG00000171824 EXOSC10 | eQTL | - | -1.8427 | 3.21e-4 |
| 1-10694007-MEI-Alu | CHM13_G0000341 ENSG00000171824 EXOSC10 | eQTL | - | -0.5659 | 3.85e-6 |
| 1-10756059-MEI-Alu | CHM13_G0000341 ENSG00000171824 EXOSC10 | eQTL | - | -0.9802 | 1.13e-6 |
| 1-11314236-MEI-SVA | CHM13_G0000366 ENSG00000177000 MTHFR | eQTL | - | 0.709 | 2.54e-54 |
| 1-11314236-MEI-SVA | CHM13_G0000367 ENSG00000011021 CLCN6 | eQTL | - | 0.2313 | 3.15e-18 |