rs2290880 chr12:93467697 T>G
- Sequence
tgcatccccagcctttgtccttcc[T/G]gcagaagagccggcatgtggctgc
- ASB in cell types
- K562 (myelogenous leukemia) MCF7 (Invasive ductal breast carcinoma) foreskin keratinocyte CD14+ monocytes
- ASB for transcription factors
- CTCF_HUMAN GABP1_HUMAN ETV1_HUMAN MAX_HUMAN
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-log10 FDR of Ref (T) 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 | |
|---|---|---|---|---|---|---|---|---|
| CTCF_HUMAN | 0.64 | 0.83 | 1.46 | n/a | No Hit | |||
| GABP1_HUMAN | -0.98 | 2.61 | 1.50 | n/a | n/a | |||
| ETV1_HUMAN | -5.13 | 3.05 | 2.00 | 1.98 | Weak Concordant | |||
| MAX_HUMAN | 0.70 | 1.43 | 1.20 | n/a | No Hit | |||
| STAT1_HUMAN | 2.14 | 1.92 | 1.67 | n/a | No Hit |
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Motif analysis
Genetic associations
GRASP acute lung injury following major trauma, alzheimers disease, college completion, diastolic blood pressure (dbp), ldl cholesterol, salmonella-induced pyroptosis, stabilized warfarin dose
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Adrenal_Gland, Artery_Aorta, Artery_Coronary, Artery_Tibial, 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, Lung, Minor_Salivary_Gland, Muscle_Skeletal, Nerve_Tibial, Ovary, Pancreas, Pituitary, Prostate, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Small_Intestine_Terminal_Ileum, Spleen, Stomach, Testis, Thyroid, Uterus, Vagina, Whole_Blood