rs200948 chr6:27867494 T>C
- Sequence
agccggggatttctccaccggcgc[T/C]ggggtggctgtctcggcaggagcg
- ASB in cell types
- GM12878 (female B-cells lymphoblastoid cell line) MOLT-4 (Adult T acute lymphoblastic leukemia)
- ASB for transcription factors
- ZN687_HUMAN CDK8_HUMAN IKZF2_HUMAN ZBT40_HUMAN
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-log10 FDR of Ref (T) 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 | |
|---|---|---|---|---|---|---|---|---|
| ZN687_HUMAN | n/a | 3.04 | 1.33 | n/a | n/a | |||
| CDK8_HUMAN | 2.30 | -2.88 | 2.00 | n/a | n/a | |||
| IKZF2_HUMAN | -4.52 | 2.63 | 1.50 | n/a | n/a | |||
| ZBT40_HUMAN | n/a | 2.59 | 1.00 | n/a | n/a | |||
| RFOX2_HUMAN | n/a | 2.07 | 2.00 | n/a | n/a |
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Motif analysis
No data available
Genetic associations
GRASP airflow obstruction, comorbid depressive syndrome and alcohol dependence, cystatin c in serum, hdl cholesterol, infant head circumference, serum creatinine, 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