rs12533730 chr7:151408980 C>T
- Sequence
ccgctggcccttaacaagcgtcta[C/T]tgttgctgtgagagtcgtcaacag
- ASB in cell types
- HepG2 (hepatoblastoma) GM12878 (female B-cells)
- ASB for transcription factors
- SOX5_HUMAN SOX13_HUMAN IKZF1_HUMAN TEAD3_HUMAN
View in PheLiGe Color scale
-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 | |
|---|---|---|---|---|---|---|---|---|
| SOX5_HUMAN | n/a | 3.26 | 1.50 | 4.02 | Concordant | |||
| SOX13_HUMAN | -3.47 | 2.88 | 1.50 | n/a | n/a | |||
| IKZF1_HUMAN | -0.83 | 1.44 | 1.33 | n/a | No Hit | |||
| TEAD3_HUMAN | -1.70 | 2.02 | 1.33 | n/a | n/a | |||
| FOXP1_HUMAN | -1.68 | 1.83 | 1.50 | n/a | No Hit |
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Motif analysis
Genetic associations
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Breast_Mammary_Tissue, Cells_Cultured_fibroblasts, Cells_EBV-transformed_lymphocytes, Esophagus_Gastroesophageal_Junction, Esophagus_Mucosa, Esophagus_Muscularis, Heart_Atrial_Appendage, Minor_Salivary_Gland, Muscle_Skeletal, Nerve_Tibial, Pituitary, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Stomach, Testis, Thyroid