rs7148292 chr14:50336122 A>G
- Sequence
agcaacaatgtctggatgaggcca[A/G]ctggttgcctgtgatacgctggag
- ASB in cell types
- BE2C MRC-5 (fetal lung fibroblasts)
- ASB for transcription factors
- HAND2_HUMAN NGN2_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 | |
|---|---|---|---|---|---|---|---|---|
| HAND2_HUMAN | -4.29 | 2.67 | 1.50 | n/a | No Hit | |||
| NGN2_HUMAN | 0.31 | 1.20 | 1.00 | 3.70 | Concordant |
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Motif analysis
Genetic associations
GRASP advanced age-related macular degeneration (choroidal neovascularization) vs. no amd, homa-b, microalbuminuria
GTEx eQTL Adipose_Visceral_Omentum, Artery_Aorta, Brain_Anterior_cingulate_cortex_BA24, Brain_Caudate_basal_ganglia, Brain_Cerebellar_Hemisphere, Brain_Cerebellum, Brain_Cortex, Brain_Frontal_Cortex_BA9, Brain_Hippocampus, Cells_Cultured_fibroblasts, Cells_EBV-transformed_lymphocytes, Colon_Sigmoid, Colon_Transverse, Esophagus_Gastroesophageal_Junction, Esophagus_Muscularis, Heart_Atrial_Appendage, Heart_Left_Ventricle, Muscle_Skeletal, Nerve_Tibial, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Stomach, Testis, Thyroid, Whole_Blood