rs635299 chr19:45770913 A>C
- Sequence
aaatgcgcagctaagcgggtggca[A/C]ggggcgggtggagcgcggggcgcg
- ASB in cell types
- K562 (myelogenous leukemia) GM12878 (female B-cells) hMADS-3 (adipose-derived stem cells)
- ASB for transcription factors
- PKNX1_HUMAN CREB1_HUMAN ZBT7A_HUMAN FOXK2_HUMAN
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-log10 FDR of Ref (A) 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 | |
|---|---|---|---|---|---|---|---|---|
| PKNX1_HUMAN | 1.39 | -0.42 | 2.00 | n/a | No Hit | |||
| CREB1_HUMAN | 1.79 | 0.61 | 2.21 | n/a | No Hit | |||
| ZBT7A_HUMAN | 1.64 | -0.62 | 1.78 | -3.02 | Concordant | |||
| FOXK2_HUMAN | 1.67 | 1.03 | 1.78 | n/a | n/a | |||
| KLF11_HUMAN | 1.45 | -0.86 | 1.33 | n/a | n/a |
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Motif analysis
Genetic associations
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Artery_Aorta, Artery_Tibial, Brain_Anterior_cingulate_cortex_BA24, Brain_Cerebellar_Hemisphere, Brain_Cerebellum, Breast_Mammary_Tissue, Colon_Sigmoid, Colon_Transverse, Esophagus_Mucosa, Esophagus_Muscularis, Liver, Lung, Nerve_Tibial, Pancreas, Prostate, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Spleen, Testis, Thyroid, Whole_Blood