rs465483 chr6:80004516 G>T
- Sequence
gcacgggtggggtcgcggccgcag[G/T]ctcttccggggcgggcctagcctg
- ASB in cell types
- K562 (myelogenous leukemia) GM12878 (female B-cells) foreskin keratinocyte
- ASB for transcription factors
- BHE40_HUMAN NR2C1_HUMAN ETV1_HUMAN HDAC1_HUMAN
View in PheLiGe Color scale
-log10 FDR of Ref (G) 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 | |
|---|---|---|---|---|---|---|---|---|
| BHE40_HUMAN | 3.25 | n/a | 1.33 | n/a | No Hit | |||
| NR2C1_HUMAN | -0.59 | 2.31 | 1.78 | n/a | No Hit | |||
| ETV1_HUMAN | -2.13 | 1.91 | 1.50 | n/a | No Hit | |||
| HDAC1_HUMAN | -0.38 | 1.86 | 2.00 | n/a | n/a | |||
| AP2A_HUMAN | 1.82 | -1.14 | 2.00 | -4.39 | Concordant |
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Motif analysis
Genetic associations
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Artery_Aorta, Artery_Coronary, Artery_Tibial, Breast_Mammary_Tissue, Cells_Cultured_fibroblasts, Esophagus_Gastroesophageal_Junction, Esophagus_Mucosa, Esophagus_Muscularis, Lung, Muscle_Skeletal, Nerve_Tibial, Thyroid