rs2378257 chr20:34710007 A>C
- Sequence
gtgggagatggcagcgccctctag[A/C]ccccccgcccagcttacccggctt
- ASB in cell types
- GM17942 (lymphoblastoid cell) pancreas MDA-MB-231-1833 (breast cancer cells, bone-tropic metastatic line) MDA-MB-231p27CK-DD (breast cancer cells, phosphimimetic p27 cell line)
- ASB for transcription factors
- CTCF_HUMAN CDN1B_HUMAN JUN_HUMAN STAG1_HUMAN
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-log10 FDR of Ref (A) 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 | |
|---|---|---|---|---|---|---|---|---|
| CTCF_HUMAN | 0.95 | 2.79 | 2.59 | 0.64 | Weak Concordant | |||
| CDN1B_HUMAN | n/a | 2.93 | 3.00 | n/a | n/a | |||
| JUN_HUMAN | -0.49 | 2.48 | 3.00 | n/a | No Hit | |||
| STAG1_HUMAN | 0.40 | 1.94 | 4.44 | n/a | n/a |
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Motif analysis
Genetic associations
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Adrenal_Gland, Artery_Aorta, Artery_Coronary, Artery_Tibial, Brain_Cerebellar_Hemisphere, Brain_Cerebellum, Brain_Cortex, Brain_Frontal_Cortex_BA9, Brain_Hippocampus, Brain_Hypothalamus, Brain_Nucleus_accumbens_basal_ganglia, Breast_Mammary_Tissue, Cells_Cultured_fibroblasts, Colon_Sigmoid, Colon_Transverse, Esophagus_Gastroesophageal_Junction, Esophagus_Mucosa, Esophagus_Muscularis, Heart_Atrial_Appendage, Heart_Left_Ventricle, Lung, Muscle_Skeletal, Nerve_Tibial, Pancreas, Pituitary, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Spleen, Stomach, Testis, Thyroid, Whole_Blood