rs489676 chr1:44986555 G>C
- Sequence
agtcacagctataactcagctccc[G/C]gcacgccgcaaccgctcccagcga
- ASB in cell types
- HEK293 (embryonic kidney) CTV-1 (Adult T acute lymphoblastic leukemia) CD34+ hematopoietic stem cells MDA-MB-231-1833 (breast cancer cells, bone-tropic metastatic line)
- ASB for transcription factors
- MEN1_HUMAN ZN143_HUMAN TIF1B_HUMAN GLIS1_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 | |
|---|---|---|---|---|---|---|---|---|
| MEN1_HUMAN | n/a | 2.85 | 2.00 | n/a | n/a | |||
| ZN143_HUMAN | 1.47 | n/a | 2.00 | -1.81 | Weak Concordant | |||
| TIF1B_HUMAN | -0.11 | 2.78 | 1.67 | n/a | n/a | |||
| GLIS1_HUMAN | -4.65 | 2.55 | 2.00 | n/a | n/a |
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Motif analysis
Genetic associations
GRASP alanine aminotransferase (alt) elevation due to lapatinib treatment of metastatic breast cancer
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Adrenal_Gland, Artery_Aorta, Artery_Tibial, Brain_Amygdala, Brain_Caudate_basal_ganglia, Brain_Cerebellar_Hemisphere, Brain_Cortex, Brain_Frontal_Cortex_BA9, 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, Muscle_Skeletal, Nerve_Tibial, Ovary, Pituitary, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Spleen, Stomach, Testis, Thyroid