rs117233806 chr19:11814279 C>T
- Sequence
aagggggaagggacagtcgccctc[C/T]gtccattcctttagtgctgcgccg
- ASB in cell types
- HEK293 (embryonic kidney) GM12878 (female B-cells lymphoblastoid cell line) MDA-MB-231-1833 (breast cancer cells, bone-tropic metastatic line) HepG2 (hepatoblastoma)
- ASB for transcription factors
- FOXK2_HUMAN HNRLL_HUMAN JUN_HUMAN ZBT17_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 | |
|---|---|---|---|---|---|---|---|---|
| FOXK2_HUMAN | 3.02 | -5.02 | 1.50 | n/a | No Hit | |||
| HNRLL_HUMAN | 2.83 | -2.70 | 1.00 | n/a | n/a | |||
| JUN_HUMAN | 1.68 | -0.78 | 2.25 | n/a | No Hit | |||
| ZBT17_HUMAN | 2.29 | n/a | 3.00 | -1.87 | Weak Concordant |
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Motif analysis
Genetic associations
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Artery_Coronary, Artery_Tibial, Breast_Mammary_Tissue, Cells_Cultured_fibroblasts, Esophagus_Gastroesophageal_Junction, Esophagus_Muscularis, Heart_Atrial_Appendage, Heart_Left_Ventricle, Lung, Muscle_Skeletal, Nerve_Tibial, Skin_Sun_Exposed_Lower_leg, Thyroid, Whole_Blood