rs228057 chr21:42535944 T>C
- Sequence
ggttcagaggttgccatctgttta[T/C]atgccccaaataacgaatttcacc
- ASB in cell types
- VCaP (prostate carcinoma) breast tumor tissue liver
- ASB for transcription factors
- ANDR_HUMAN FOXA1_HUMAN ESR1_HUMAN SP1_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 | |
|---|---|---|---|---|---|---|---|---|
| ANDR_HUMAN | -0.37 | 1.91 | 1.50 | 0.47 | Weak Concordant | |||
| FOXA1_HUMAN | -2.47 | 2.37 | 1.50 | 1.29 | Weak Concordant | |||
| ESR1_HUMAN | n/a | 2.36 | 2.00 | n/a | No Hit | |||
| SP1_HUMAN | -1.72 | 1.88 | 1.33 | n/a | No Hit |
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Motif analysis
Genetic associations
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Adrenal_Gland, Artery_Coronary, Artery_Tibial, Brain_Anterior_cingulate_cortex_BA24, Brain_Caudate_basal_ganglia, Brain_Cerebellar_Hemisphere, Brain_Cortex, Brain_Putamen_basal_ganglia, Breast_Mammary_Tissue, Cells_Cultured_fibroblasts, Esophagus_Mucosa, Esophagus_Muscularis, Heart_Left_Ventricle, Liver, Lung, Muscle_Skeletal, Nerve_Tibial, Ovary, Pituitary, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Small_Intestine_Terminal_Ileum, Testis, Thyroid