rs2290879 chr12:93467477 T>C
- Sequence
catttcccagaatgccccgcgggc[T/C]gggacggcgcgcgcagcgctgttt
- ASB in cell types
- K562 (myelogenous leukemia) HEK293 (embryonic kidney) MCF7 (Invasive ductal breast carcinoma) HepG2 (hepatoblastoma)
- ASB for transcription factors
- SUZ12_HUMAN STAT1_HUMAN HDAC1_HUMAN NR2C1_HUMAN
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-log10 FDR of Ref (T) ASB
-log10 FDR of Alt (C) 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 | |
|---|---|---|---|---|---|---|---|---|
| SUZ12_HUMAN | -1.01 | 1.35 | 1.75 | n/a | n/a | |||
| STAT1_HUMAN | 1.81 | 0.77 | 2.00 | n/a | No Hit | |||
| HDAC1_HUMAN | -0.89 | 1.57 | 2.00 | n/a | n/a | |||
| NR2C1_HUMAN | 0.23 | 2.00 | 1.94 | n/a | No Hit | |||
| ZN189_HUMAN | 2.21 | -3.26 | 2.00 | n/a | n/a |
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Motif analysis
No data available
Genetic associations
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Adrenal_Gland, Artery_Aorta, Artery_Coronary, Artery_Tibial, Breast_Mammary_Tissue, Cells_Cultured_fibroblasts, Cells_EBV-transformed_lymphocytes, Colon_Sigmoid, Colon_Transverse, Esophagus_Gastroesophageal_Junction, Esophagus_Mucosa, Esophagus_Muscularis, Heart_Atrial_Appendage, Heart_Left_Ventricle, Lung, Minor_Salivary_Gland, Muscle_Skeletal, Nerve_Tibial, Ovary, Pancreas, Pituitary, Prostate, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Small_Intestine_Terminal_Ileum, Spleen, Stomach, Testis, Thyroid, Uterus, Vagina, Whole_Blood