rs500317 chr2:218568230 G>C
- Sequence
agacccgcggaaagcacggagccc[G/C]cgaggagtgggaggagccgagggt
- ASB in cell types
- HepG2 (hepatoblastoma) GM12878 (female B-cells) HEK293T (embryonic kidney) HEK293 (embryonic kidney)
- ASB for transcription factors
- FOXK2_HUMAN CREB1_HUMAN LMBL2_HUMAN
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-log10 FDR of Ref (G) ASB
-log10 FDR of Alt (C) 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 | 2.86 | 0.83 | 1.83 | n/a | n/a | |||
| CREB1_HUMAN | 1.34 | -0.18 | 1.78 | n/a | No Hit | |||
| LMBL2_HUMAN | n/a | 0.67 | 2.00 | n/a | n/a |
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Motif analysis
No data available
Genetic associations
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Artery_Aorta, Artery_Coronary, Artery_Tibial, Brain_Cerebellar_Hemisphere, Brain_Cerebellum, Brain_Cortex, Brain_Frontal_Cortex_BA9, Breast_Mammary_Tissue, Cells_Cultured_fibroblasts, Colon_Transverse, Esophagus_Gastroesophageal_Junction, Esophagus_Mucosa, Heart_Atrial_Appendage, Liver, Lung, Muscle_Skeletal, Nerve_Tibial, Pancreas, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Spleen, Stomach, Testis, Thyroid, Whole_Blood