rs1797399 chr2:231541746 G>T
- Sequence
tcctctctccgcctgggggcgcta[G/T]ttagcacagtggagtgtcttctgt
- ASB in cell types
- WA09 (embryonic stem cells)
- ASB for transcription factors
- CTCF_HUMAN
View in PheLiGe Color scale
-log10 FDR of Ref (G) 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 | |
|---|---|---|---|---|---|---|---|---|
| CTCF_HUMAN | 1.04 | 0.19 | 1.54 | 0.45 | Weak Discordant |
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Motif analysis
Genetic associations
GRASP height, hypertension (early onset hypertension), irritible bowel syndrome, late onset alzheimers disease, ldl cholesterol, neuroblastoma (brain cancer), stabilized warfarin dose, tetrology of fallot, total cholesterol, waist hip ratio
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Adrenal_Gland, Brain_Cerebellar_Hemisphere, Brain_Cerebellum, Breast_Mammary_Tissue, Cells_Cultured_fibroblasts, Cells_EBV-transformed_lymphocytes, Colon_Sigmoid, Colon_Transverse, Esophagus_Mucosa, Heart_Atrial_Appendage, Muscle_Skeletal, Nerve_Tibial, Pancreas, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Stomach, Testis, Thyroid