rs400547 chr6:31734933 C>T
- Sequence
gcagctaaggctacccctaacctg[C/T]tgccagggtctcccagcacaagtc
- ASB in cell types
- K562 (myelogenous leukemia) breast tumor
- ASB for transcription factors
- SMAD5_HUMAN ESR1_HUMAN MTG16_HUMAN TIF1A_HUMAN
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-log10 FDR of Ref (C) ASB
-log10 FDR of Alt (T) 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 | |
|---|---|---|---|---|---|---|---|---|
| SMAD5_HUMAN | n/a | 3.17 | 3.00 | n/a | No Hit | |||
| ESR1_HUMAN | 2.40 | -0.12 | 1.40 | n/a | No Hit | |||
| MTG16_HUMAN | n/a | 2.89 | 4.00 | n/a | n/a | |||
| TIF1A_HUMAN | n/a | 2.61 | 3.00 | n/a | n/a | |||
| SMCA4_HUMAN | -0.02 | 2.14 | 2.25 | n/a | n/a |
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Motif analysis
No data available
Genetic associations
GRASP hdl cholesterol, infant head circumference, parkinsons disease, rheumatoid arthritis, serum creatinine, total cholesterol, triglycerides
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Artery_Aorta, Artery_Tibial, Brain_Cerebellum, Brain_Nucleus_accumbens_basal_ganglia, Breast_Mammary_Tissue, Cells_Cultured_fibroblasts, Colon_Sigmoid, Colon_Transverse, Esophagus_Gastroesophageal_Junction, Esophagus_Mucosa, Esophagus_Muscularis, Heart_Left_Ventricle, Lung, Muscle_Skeletal, Nerve_Tibial, Pancreas, Pituitary, Prostate, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Spleen, Stomach, Testis, Thyroid, Whole_Blood