rs4993566 chr1:11909937 T>G
- Sequence
gagaaactagagtaagaacttcga[T/G]gagtggcactcagttctcaggtaa
- ASB in cell types
- K562 (myelogenous leukemia) HCT-116 (colon carcinoma) SET2 (Adult acute megakaryoblastic leukemia, Homo Sapiens) HeLa (cervical adenocarcinoma)
- ASB for transcription factors
- MED26_HUMAN ELL2_HUMAN STAT1_HUMAN RING2_HUMAN
View in PheLiGe Color scale
-log10 FDR of Ref (T) ASB
-log10 FDR of Alt (G) ASB
Details
Transcription factors
Cell types
Uniprot ID | Effect size Ref | Effect size Alt | FDR Ref | FDR Alt | Mean BAD | Motif fold change | Motif concordance | |
|---|---|---|---|---|---|---|---|---|
| MED26_HUMAN | 3.15 | -4.62 | 1.50 | n/a | n/a | |||
| ELL2_HUMAN | 2.42 | n/a | 2.50 | n/a | n/a | |||
| STAT1_HUMAN | 3.26 | n/a | 3.00 | n/a | No Hit | |||
| RING2_HUMAN | 2.62 | -0.21 | 1.12 | n/a | n/a | |||
| MBD4_HUMAN | 2.65 | 0.20 | 1.00 | n/a | n/a |
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Motif analysis
Genetic associations
GTEx eQTL Artery_Tibial, Cells_Cultured_fibroblasts, Esophagus_Mucosa, Heart_Atrial_Appendage, Muscle_Skeletal, Testis, Thyroid, Whole_Blood