rs7137233 chr12:110048467 T>C
- Sequence
accaggaggctgcagaggccaagg[T/C]acagccacggtaacgctggacgca
- ASB in cell types
- K562 (myelogenous leukemia) MCF7 (Invasive ductal breast carcinoma) liver GM12878 (female B-cells)
- ASB for transcription factors
- HNF4A_HUMAN HDAC1_HUMAN MNT_HUMAN CTCF_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 | |
|---|---|---|---|---|---|---|---|---|
| HNF4A_HUMAN | 1.83 | n/a | 1.33 | -4.26 | Concordant | |||
| HDAC1_HUMAN | -0.81 | 1.88 | 2.00 | n/a | n/a | |||
| MNT_HUMAN | -0.69 | 1.40 | 1.83 | n/a | n/a | |||
| CTCF_HUMAN | 0.65 | 0.15 | 1.57 | n/a | No Hit |
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Motif analysis
Genetic associations
GRASP coronary artery disease (cad), cystatin c in serum, hdl cholesterol, homa-ir, total cholesterol, triglycerides, waist hip ratio
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Adrenal_Gland, Artery_Aorta, Artery_Tibial, Brain_Caudate_basal_ganglia, Brain_Cerebellum, Brain_Putamen_basal_ganglia, Cells_Cultured_fibroblasts, Colon_Sigmoid, Colon_Transverse, Esophagus_Gastroesophageal_Junction, Esophagus_Mucosa, Esophagus_Muscularis, Liver, Lung, Muscle_Skeletal, Nerve_Tibial, Pancreas, Pituitary, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Testis, Thyroid, Whole_Blood