rs751633 chr17:77389693 C>A
- Sequence
ccttctgctgccttccaccaggga[C/A]ggagggtgggcggccctcccaccc
- ASB in cell types
- K562 (myelogenous leukemia) cranial neural crest cells SK-BR-3 (breast adenocarcinoma) GM12878 (female B-cells)
- ASB for transcription factors
- COT1_HUMAN IKZF1_HUMAN EGR1_HUMAN NCOR1_HUMAN
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-log10 FDR of Ref (C) 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 | |
|---|---|---|---|---|---|---|---|---|
| COT1_HUMAN | 0.39 | 2.28 | 1.78 | n/a | No Hit | |||
| IKZF1_HUMAN | 2.14 | 0.87 | 1.67 | n/a | No Hit | |||
| EGR1_HUMAN | 1.99 | -0.53 | 2.00 | -0.10 | Weak Concordant | |||
| NCOR1_HUMAN | 2.06 | -1.13 | 2.00 | n/a | n/a | |||
| CTBP1_HUMAN | 2.63 | n/a | 2.00 | n/a | n/a |
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Motif analysis
Genetic associations
GTEx eQTL Adipose_Visceral_Omentum, Artery_Aorta, Artery_Tibial, Brain_Cerebellar_Hemisphere, Brain_Cerebellum, Colon_Sigmoid, Colon_Transverse, Esophagus_Gastroesophageal_Junction, Esophagus_Mucosa, Esophagus_Muscularis, Heart_Atrial_Appendage, Lung, Ovary, Stomach, Testis, Thyroid, Whole_Blood