rs3749022 chr2:190319798 C>T
- Sequence
cagcagagcgagaatctcccggac[C/T]gttccagcgcctcgcgtgagcccc
- ASB in cell types
- HepG2 (hepatoblastoma) MCF7 (Invasive ductal breast carcinoma) 22RV1 (prostate carcinoma) GM12878 (female B-cells lymphoblastoid cell line)
- ASB for transcription factors
- TYY1_HUMAN ANDR_HUMAN NELFE_HUMAN IRF5_HUMAN
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-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 | |
|---|---|---|---|---|---|---|---|---|
| TYY1_HUMAN | 0.08 | 2.70 | 2.00 | n/a | No Hit | |||
| ANDR_HUMAN | 0.57 | 3.33 | 1.56 | 2.28 | Concordant | |||
| NELFE_HUMAN | -2.56 | 1.89 | 1.50 | n/a | n/a | |||
| IRF5_HUMAN | n/a | 2.30 | 1.00 | n/a | No Hit | |||
| IKZF1_HUMAN | 0.20 | 1.92 | 1.10 | n/a | n/a |
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Motif analysis
Genetic associations
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Adrenal_Gland, Artery_Tibial, Brain_Amygdala, Brain_Anterior_cingulate_cortex_BA24, Brain_Caudate_basal_ganglia, Brain_Cortex, Brain_Frontal_Cortex_BA9, Brain_Hippocampus, Brain_Hypothalamus, Brain_Nucleus_accumbens_basal_ganglia, 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, Pancreas, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Stomach, Testis, Thyroid, Whole_Blood