rs3782235 chr12:56521763 G>A
- Sequence
acatcttgggcattaggacccagt[G/A]gaagtgcctctgcctcattcagac
- ASB in cell types
- GM12878 (female B-cells lymphoblastoid cell line) HEK293 (embryonic kidney) CTV-1 (Adult T acute lymphoblastic leukemia)
- ASB for transcription factors
- ATF7_HUMAN ZN143_HUMAN IKZF2_HUMAN SPI1_HUMAN
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-log10 FDR of Ref (G) ASB
-log10 FDR of Alt (A) 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 | |
|---|---|---|---|---|---|---|---|---|
| ATF7_HUMAN | 3.61 | -3.29 | 1.00 | n/a | No Hit | |||
| ZN143_HUMAN | 2.17 | -1.89 | 1.25 | n/a | No Hit | |||
| IKZF2_HUMAN | 1.88 | -1.12 | 1.00 | n/a | n/a | |||
| SPI1_HUMAN | 1.49 | -1.19 | 1.50 | -1.87 | Weak Concordant | |||
| RELB_HUMAN | 2.19 | -1.85 | 1.00 | n/a | No Hit |
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Motif analysis
Genetic associations
GRASP amyotrophic lateral sclerosis (als), ldl cholesterol, neuroblastoma (brain cancer), refractive error
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Artery_Aorta, Artery_Coronary, Artery_Tibial, Brain_Cerebellar_Hemisphere, Brain_Cerebellum, Cells_Cultured_fibroblasts, Cells_EBV-transformed_lymphocytes, Colon_Transverse, Esophagus_Mucosa, Heart_Atrial_Appendage, Heart_Left_Ventricle, Muscle_Skeletal, Skin_Not_Sun_Exposed_Suprapubic, Small_Intestine_Terminal_Ileum, Spleen, Testis, Thyroid, Whole_Blood