rs200485 chr6:27807919 G>C
- Sequence
cagctcgggcataatgaaacaata[G/C]tggcaaaaccaaaacaagaagtcg
- ASB in cell types
- HepG2 (hepatoblastoma) breast tumor GM12878 (female B-cells lymphoblastoid cell line) BEAS-2B (bronchial epithelium)
- ASB for transcription factors
- RBM25_HUMAN ESR1_HUMAN RFOX2_HUMAN GCR_HUMAN
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-log10 FDR of Ref (G) 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 | |
|---|---|---|---|---|---|---|---|---|
| RBM25_HUMAN | 2.55 | -1.75 | 2.00 | n/a | n/a | |||
| ESR1_HUMAN | 3.02 | n/a | 3.00 | n/a | No Hit | |||
| RFOX2_HUMAN | 1.88 | -0.97 | 2.00 | n/a | n/a | |||
| GCR_HUMAN | 0.22 | 0.81 | 1.00 | n/a | No Hit | |||
| STAG1_HUMAN | 1.43 | -0.09 | 1.08 | n/a | n/a |
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Motif analysis
No data available
Genetic associations
GRASP airflow obstruction, cystatin c in serum, hdl cholesterol, infant head circumference, serum creatinine, total cholesterol, triglycerides
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Adrenal_Gland, Artery_Aorta, Artery_Coronary, Artery_Tibial, Brain_Anterior_cingulate_cortex_BA24, Brain_Caudate_basal_ganglia, Brain_Cerebellar_Hemisphere, Brain_Cerebellum, Brain_Cortex, Brain_Frontal_Cortex_BA9, Brain_Hippocampus, Brain_Hypothalamus, Brain_Nucleus_accumbens_basal_ganglia, Brain_Putamen_basal_ganglia, Brain_Spinal_cord_cervical_c-1, Breast_Mammary_Tissue, Cells_Cultured_fibroblasts, Colon_Sigmoid, Colon_Transverse, Esophagus_Gastroesophageal_Junction, Esophagus_Mucosa, Esophagus_Muscularis, Heart_Atrial_Appendage, Heart_Left_Ventricle, Liver, Lung, Muscle_Skeletal, Nerve_Tibial, Ovary, Pancreas, Pituitary, Prostate, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Spleen, Stomach, Testis, Thyroid