rs12476127 chr2:136005672 A>G
- Sequence
ccaggaaagtgctgactcagcaca[A/G]tgctgtctgttagccaggaacaaa
- ASB in cell types
- HepG2 (hepatoblastoma)
- ASB for transcription factors
- MAFF_HUMAN MAFK_HUMAN
View in PheLiGe Color scale
-log10 FDR of Ref (A) ASB
-log10 FDR of Alt (G) 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 | |
|---|---|---|---|---|---|---|---|---|
| MAFF_HUMAN | 2.30 | -3.18 | 2.00 | -2.45 | Concordant | |||
| MAFK_HUMAN | 2.02 | -0.75 | 2.00 | -3.29 | Concordant |
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Motif analysis
Genetic associations
GRASP 2 hour glucose, aortic valve calcium, cystatin c in serum, hdl cholesterol, ldl cholesterol, refractive error, total cholesterol
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Adrenal_Gland, Artery_Aorta, Artery_Tibial, Brain_Caudate_basal_ganglia, Brain_Cerebellar_Hemisphere, Brain_Nucleus_accumbens_basal_ganglia, Brain_Putamen_basal_ganglia, Breast_Mammary_Tissue, Cells_Cultured_fibroblasts, Colon_Sigmoid, Colon_Transverse, Esophagus_Gastroesophageal_Junction, Esophagus_Mucosa, Esophagus_Muscularis, Lung, Muscle_Skeletal, Pancreas, Pituitary, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Small_Intestine_Terminal_Ileum, Spleen, Testis, Thyroid, Whole_Blood