rs1793923 chr12:47990339 T>C
- Sequence
tcttaaacaaagcttaaatcattt[T/C]ctcttttcttcaacttcagttcag
- ASB in cell types
- CTV-1 (Adult T acute lymphoblastic leukemia) GM12878 (female B-cells lymphoblastoid cell line) germinal center B-cells
- ASB for transcription factors
- SPI1_HUMAN IKZF2_HUMAN ETS1_HUMAN CBP_HUMAN
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-log10 FDR of Ref (T) 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 | |
|---|---|---|---|---|---|---|---|---|
| SPI1_HUMAN | -0.77 | 2.19 | 1.00 | 5.70 | Concordant | |||
| IKZF2_HUMAN | -1.86 | 2.48 | 1.00 | n/a | n/a | |||
| ETS1_HUMAN | -1.60 | 2.28 | 1.00 | 4.65 | Concordant | |||
| CBP_HUMAN | n/a | 2.20 | 2.00 | n/a | n/a | |||
| MEF2B_HUMAN | n/a | 2.69 | 2.00 | -1.40 | Weak Discordant |
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Motif analysis
Genetic associations
GRASP college completion, comorbid depressive syndrome and alcohol dependence, cystatin c in serum, fasting blood glucose, microalbuminuria, prop taste detection threshold, serum creatinine, urinary albumin-to-creatinine ratio
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Artery_Tibial, Brain_Caudate_basal_ganglia, Brain_Cerebellar_Hemisphere, Brain_Cerebellum, Brain_Nucleus_accumbens_basal_ganglia, Brain_Substantia_nigra, Breast_Mammary_Tissue, Cells_Cultured_fibroblasts, Colon_Sigmoid, Esophagus_Gastroesophageal_Junction, Esophagus_Mucosa, Esophagus_Muscularis, Heart_Atrial_Appendage, Heart_Left_Ventricle, Lung, Muscle_Skeletal, Nerve_Tibial, Pancreas, Pituitary, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Spleen, Testis, Thyroid, Whole_Blood