rs3132612 chr6:30571661 C>G
- Sequence
tggggcacgagactgaccgggccc[C/G]tgcgggagttactgcgcatgcgtg
- ASB in cell types
- K562 (myelogenous leukemia) MCF7 (Invasive ductal breast carcinoma)
- ASB for transcription factors
- ENL_HUMAN CLOCK_HUMAN MNT_HUMAN STAG1_HUMAN
View in PheLiGe Color scale
-log10 FDR of Ref (C) ASB
-log10 FDR of Alt (G) 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 | |
|---|---|---|---|---|---|---|---|---|
| ENL_HUMAN | -0.03 | 3.22 | 3.00 | n/a | n/a | |||
| CLOCK_HUMAN | n/a | 2.94 | 1.50 | n/a | No Hit | |||
| MNT_HUMAN | n/a | 0.78 | 3.00 | n/a | n/a | |||
| STAG1_HUMAN | 1.30 | 0.24 | 1.00 | n/a | n/a | |||
| TYY1_HUMAN | 2.41 | -1.65 | 2.00 | n/a | No Hit |
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Motif analysis
No data available
Genetic associations
GRASP cystatin c in serum, diastolic blood pressure (dbp), hdl cholesterol, height, ldl cholesterol, ldl cholesterol change with statins, rheumatoid arthritis, total cholesterol, triglycerides
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Artery_Aorta, Artery_Coronary, Artery_Tibial, Brain_Putamen_basal_ganglia, 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, Liver, Lung, Minor_Salivary_Gland, Muscle_Skeletal, Nerve_Tibial, Ovary, Pancreas, Prostate, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Spleen, Stomach, Testis, Thyroid, Uterus, Vagina, Whole_Blood