rs72886903 chr1:46348188 C>T
- Sequence
gccaccgcgcccggccccttgtgt[C/T]aagtactcacttcagccatccact
- ASB in cell types
- HEK293 (embryonic kidney) MCF7 (Invasive ductal breast carcinoma) HEK293T (embryonic kidney) DOHH2 (diffuse large B-cell lymphoma)
- ASB for transcription factors
- CTCF_HUMAN PKNX1_HUMAN ZN654_HUMAN PRD10_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 | |
|---|---|---|---|---|---|---|---|---|
| CTCF_HUMAN | 1.16 | 0.29 | 1.47 | -0.76 | Weak Concordant | |||
| PKNX1_HUMAN | 2.15 | -1.19 | 2.00 | n/a | No Hit | |||
| ZN654_HUMAN | 1.90 | -2.21 | 1.50 | n/a | n/a | |||
| PRD10_HUMAN | 2.39 | -3.65 | 2.00 | n/a | n/a | |||
| ZN335_HUMAN | 2.05 | -1.88 | 2.00 | n/a | No Hit |
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Motif analysis
Genetic associations
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, 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, Lung, Minor_Salivary_Gland, Muscle_Skeletal, Nerve_Tibial, Pancreas, Pituitary, Prostate, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Spleen, Testis, Thyroid, Whole_Blood