rs12503122 chr4:10117007 T>C
- Sequence
tcccccgccggccccggccccgcc[T/C]ccgccttgctcgccccgccccgga
- ASB in cell types
- K562 (myelogenous leukemia) LNCaP (prostate carcinoma) ME-1 (acute myeloid leukemia )
- ASB for transcription factors
- NRF1_HUMAN GABPA_HUMAN CREB1_HUMAN
View in PheLiGe Color scale
-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 | |
|---|---|---|---|---|---|---|---|---|
| NRF1_HUMAN | 2.32 | -3.35 | 2.00 | -2.20 | Concordant | |||
| GABPA_HUMAN | 1.26 | 0.21 | 1.71 | n/a | No Hit | |||
| CREB1_HUMAN | 0.98 | -0.45 | 1.47 | n/a | No Hit |
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Motif analysis
Genetic associations
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Artery_Aorta, Artery_Coronary, Artery_Tibial, Cells_Cultured_fibroblasts, Cells_EBV-transformed_lymphocytes, Colon_Sigmoid, Colon_Transverse, Esophagus_Gastroesophageal_Junction, Esophagus_Mucosa, Esophagus_Muscularis, Heart_Left_Ventricle, Lung, Muscle_Skeletal, Nerve_Tibial, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Small_Intestine_Terminal_Ileum, Thyroid, Uterus, Whole_Blood