rs473451 chr6:149317062 C>T
- Sequence
gggtccggccgggcccccggaccc[C/T]acccgcgcggcgccgccggccgcc
- ASB in cell types
- K562 (myelogenous leukemia) GM12878 (female B-cells) thymus-derived CD34- cells
- ASB for transcription factors
- BC11B_HUMAN ZBT7A_HUMAN GABPA_HUMAN VEZF1_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 | |
|---|---|---|---|---|---|---|---|---|
| BC11B_HUMAN | 1.98 | -0.77 | 2.00 | n/a | n/a | |||
| ZBT7A_HUMAN | 1.34 | -0.63 | 1.46 | -0.13 | Weak Concordant | |||
| GABPA_HUMAN | 1.45 | -1.48 | 1.00 | n/a | No Hit | |||
| VEZF1_HUMAN | 1.96 | -2.37 | 1.50 | n/a | No Hit |
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Motif analysis
Genetic associations
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Artery_Aorta, Artery_Tibial, Brain_Putamen_basal_ganglia, Breast_Mammary_Tissue, Cells_Cultured_fibroblasts, Colon_Sigmoid, Esophagus_Gastroesophageal_Junction, Esophagus_Mucosa, Esophagus_Muscularis, Heart_Atrial_Appendage, Lung, Muscle_Skeletal, Nerve_Tibial, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Thyroid, Whole_Blood