rs12116492 chr1:150561892 T>C
- Sequence
gaaagtggctgagaaggaagaatt[T/C]ggacatcttaagaggagagcgagt
- ASB in cell types
- HEK293 (embryonic kidney) K562 (myelogenous leukemia) MCF7 (Invasive ductal breast carcinoma) FaDu(Hypopharyngeal squamous cell carcinoma)
- ASB for transcription factors
- SCRT2_HUMAN NCOR1_HUMAN ZN639_HUMAN PEX2_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 | |
|---|---|---|---|---|---|---|---|---|
| SCRT2_HUMAN | n/a | 2.57 | 2.00 | n/a | n/a | |||
| NCOR1_HUMAN | -0.60 | 2.45 | 2.00 | n/a | n/a | |||
| ZN639_HUMAN | -0.32 | 2.43 | 2.00 | n/a | n/a | |||
| PEX2_HUMAN | 2.35 | -1.88 | 1.00 | n/a | n/a |
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Motif analysis
No data available
Genetic associations
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Adrenal_Gland, Artery_Aorta, Artery_Coronary, Artery_Tibial, Brain_Amygdala, Brain_Anterior_cingulate_cortex_BA24, Brain_Caudate_basal_ganglia, Brain_Cerebellar_Hemisphere, Brain_Cerebellum, Brain_Cortex, Brain_Nucleus_accumbens_basal_ganglia, Brain_Putamen_basal_ganglia, Breast_Mammary_Tissue, Cells_Cultured_fibroblasts, Cells_EBV-transformed_lymphocytes, Colon_Sigmoid, 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, Uterus, Vagina, Whole_Blood