rs12227917 chr12:7189747 C>G
- Sequence
ggcgggtcgtgcggcgcggcgctc[C/G]gcggtgagcgcctgaccccgaggg
- ASB in cell types
- MOLT-4 (Adult T acute lymphoblastic leukemia) GM12878 (female B-cells lymphoblastoid cell line) HEK293 (embryonic kidney) SKH1 (chronic myelogenous leukemia, BCR-ABL1 positive)
- ASB for transcription factors
- CDK9_HUMAN COT1_HUMAN RUNX1_HUMAN SMCA4_HUMAN
View in PheLiGe Color scale
-log10 FDR of Ref (C) ASB
-log10 FDR of Alt (G) 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 | |
|---|---|---|---|---|---|---|---|---|
| CDK9_HUMAN | 2.64 | -2.30 | 1.00 | n/a | n/a | |||
| COT1_HUMAN | 3.05 | n/a | 1.00 | n/a | No Hit | |||
| RUNX1_HUMAN | 1.86 | -0.35 | 1.33 | n/a | No Hit | |||
| SMCA4_HUMAN | 1.40 | -0.92 | 1.00 | n/a | n/a | |||
| ZN692_HUMAN | 3.03 | -5.54 | 2.00 | n/a | No Hit |
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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_Cortex, Brain_Frontal_Cortex_BA9, Brain_Hippocampus, Brain_Hypothalamus, Brain_Nucleus_accumbens_basal_ganglia, Brain_Putamen_basal_ganglia, Brain_Spinal_cord_cervical_c-1, Brain_Substantia_nigra, 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, Muscle_Skeletal, Nerve_Tibial, Ovary, Pancreas, Prostate, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Small_Intestine_Terminal_Ileum, Spleen, Stomach, Testis, Thyroid, Uterus, Vagina, Whole_Blood