rs40012 chr5:77492617 G>C
- Sequence
cgaccccggcgagcaagcgcgcac[G/C]aagaataatgcccctccctgtgac
- ASB in cell types
- A549 (lung carcinoma) foreskin keratinocyte CD34+ hematopoietic stem cells MDA-MB-231-1833 (breast cancer cells, bone-tropic metastatic line)
- ASB for transcription factors
- CDN1B_HUMAN TIF1B_HUMAN JUN_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 | |
|---|---|---|---|---|---|---|---|---|
| CDN1B_HUMAN | -0.14 | 1.51 | 2.00 | n/a | n/a | |||
| TIF1B_HUMAN | -4.75 | 2.34 | 2.00 | n/a | n/a | |||
| JUN_HUMAN | 0.32 | 1.00 | 2.00 | n/a | No Hit |
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Motif analysis
No data available
Genetic associations
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Brain_Caudate_basal_ganglia, Brain_Cerebellar_Hemisphere, Brain_Cerebellum, Brain_Nucleus_accumbens_basal_ganglia, Brain_Putamen_basal_ganglia, Brain_Spinal_cord_cervical_c-1, Cells_Cultured_fibroblasts, Cells_EBV-transformed_lymphocytes, Esophagus_Gastroesophageal_Junction, Esophagus_Mucosa, Esophagus_Muscularis, Muscle_Skeletal, Nerve_Tibial, Pancreas, Pituitary, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Whole_Blood