rs594600 chr19:48875257 A>G
- Sequence
gagcccagattcttgagtcttaga[A/G]agaaagggggctgggggccgagac
- ASB in cell types
- HEK293 (embryonic kidney) GM12878 (female B-cells) ICN12 (primary pre-B acute lymphomablastic leukemia) macrophages
- ASB for transcription factors
- PBX1_HUMAN ELF1_HUMAN CEBPB_HUMAN JUND_HUMAN
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-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 | |
|---|---|---|---|---|---|---|---|---|
| PBX1_HUMAN | -1.87 | 2.10 | 1.33 | n/a | No Hit | |||
| ELF1_HUMAN | -2.13 | 1.95 | 1.33 | n/a | No Hit | |||
| CEBPB_HUMAN | 1.68 | -3.74 | 2.50 | n/a | No Hit | |||
| JUND_HUMAN | -1.72 | 1.65 | 1.33 | n/a | No Hit |
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Motif analysis
No data available
Genetic associations
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Adrenal_Gland, Artery_Aorta, Artery_Tibial, Brain_Caudate_basal_ganglia, Brain_Nucleus_accumbens_basal_ganglia, Brain_Putamen_basal_ganglia, Breast_Mammary_Tissue, Cells_Cultured_fibroblasts, Cells_EBV-transformed_lymphocytes, Colon_Sigmoid, Colon_Transverse, Esophagus_Gastroesophageal_Junction, Esophagus_Mucosa, Esophagus_Muscularis, Heart_Atrial_Appendage, Heart_Left_Ventricle, Lung, Muscle_Skeletal, Nerve_Tibial, Ovary, Pancreas, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Spleen, Stomach, Testis, Thyroid, Whole_Blood