rs12626759 chr21:44931219 T>G
- Sequence
ccaggaagcggctccgtgctgggc[T/G]cagccggtctcctacccaccccag
- ASB in cell types
- GM12878 (female B-cells lymphoblastoid cell line) BEAS-2B (bronchial epithelium) CTV-1 (Adult T acute lymphoblastic leukemia)
- ASB for transcription factors
- MEF2B_HUMAN ELF1_HUMAN IKZF1_HUMAN GCR_HUMAN
View in PheLiGe Color scale
-log10 FDR of Ref (T) 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 | |
|---|---|---|---|---|---|---|---|---|
| MEF2B_HUMAN | -0.69 | 1.39 | 1.71 | n/a | No Hit | |||
| ELF1_HUMAN | -0.14 | 2.89 | 1.00 | n/a | No Hit | |||
| IKZF1_HUMAN | -1.44 | 1.79 | 1.00 | n/a | n/a | |||
| GCR_HUMAN | -0.58 | 2.15 | 1.00 | n/a | No Hit | |||
| SPI1_HUMAN | -0.28 | 1.30 | 1.65 | 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_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, Colon_Transverse, Esophagus_Mucosa, Esophagus_Muscularis, Heart_Atrial_Appendage, Heart_Left_Ventricle, Lung, Minor_Salivary_Gland, Muscle_Skeletal, Nerve_Tibial, Pancreas, Prostate, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Spleen, Stomach, Testis, Thyroid, Whole_Blood