rs12197221 chr6:30828607 T>C
- Sequence
catgacatagcagattgttttgct[T/C]ggggctttggcttggtctggggcg
- ASB in cell types
- K562 (myelogenous leukemia) THP-1 (acute monocytic leukemia) CD14+ monocytes TTC-1240 (Rhabdoid tumor of the kidney)
- ASB for transcription factors
- STAT1_HUMAN CTBP1_HUMAN VEZF1_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 | |
|---|---|---|---|---|---|---|---|---|
| STAT1_HUMAN | 2.21 | -0.64 | 2.00 | n/a | No Hit | |||
| CTBP1_HUMAN | 2.67 | n/a | 3.00 | n/a | n/a | |||
| VEZF1_HUMAN | 2.19 | n/a | 3.00 | n/a | No Hit |
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Motif analysis
No data available
Genetic associations
GRASP advanced age-related macular degeneration, diastolic blood pressure (dbp), rheumatoid arthritis, triglycerides
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Artery_Aorta, Artery_Tibial, Brain_Spinal_cord_cervical_c-1, 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, Kidney_Cortex, Liver, Lung, Muscle_Skeletal, Nerve_Tibial, Pancreas, Prostate, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Spleen, Stomach, Testis, Thyroid, Whole_Blood