rs2990245 chr1:155227671 C>T
- Sequence
ctccctgaccatccgtagcacaga[C/T]ggggcgcaagcgtattggaaaggg
- ASB in cell types
- HeLa S3 (cervical adenocarcinoma) T47D (invasive ductal carcinoma) HepG2 (hepatoblastoma) KB (cervical adenocarcinoma)
- ASB for transcription factors
- UBF1_HUMAN NRF1_HUMAN CREB1_HUMAN
View in PheLiGe Color scale
-log10 FDR of Ref (C) 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 | |
|---|---|---|---|---|---|---|---|---|
| UBF1_HUMAN | -3.03 | 2.53 | 1.50 | n/a | n/a | |||
| NRF1_HUMAN | 0.87 | 1.48 | 1.73 | -1.25 | Weak Discordant | |||
| CREB1_HUMAN | 0.61 | 0.12 | 1.42 | n/a | No Hit |
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Motif analysis
Genetic associations
GRASP advanced age-related macular degeneration, advanced age-related macular degeneration (choroidal neovascularization) vs. no amd, comorbid depressive syndrome and alcohol dependence, fasting blood glucose, hdl cholesterol, parkinsons disease (pd), serum magnesium, serum urate, sporadic creutzfeldt-jakob disease, total cholesterol, triglycerides, urinary albumin-to-creatinine ratio, waist hip ratio
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Adrenal_Gland, Artery_Aorta, Artery_Coronary, Artery_Tibial, Brain_Cerebellar_Hemisphere, Brain_Cerebellum, Brain_Cortex, Brain_Frontal_Cortex_BA9, 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, Pituitary, Prostate, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Small_Intestine_Terminal_Ileum, Spleen, Stomach, Testis, Thyroid, Vagina, Whole_Blood