rs6088749 chr20:31608553 C>G
- Sequence
cccagcccatctggaggccggctc[C/G]gcggcggcctgggagcgtttccat
- ASB in cell types
- cranial neural crest cells tibial nerve MCF7 (Invasive ductal breast carcinoma) MCF-7 C4-12 (invasive breast ductal carcinoma)
- ASB for transcription factors
- ZFX_HUMAN COT1_HUMAN EP300_HUMAN ESR1_HUMAN
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-log10 FDR of Ref (C) ASB
-log10 FDR of Alt (G) 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 | |
|---|---|---|---|---|---|---|---|---|
| ZFX_HUMAN | 0.49 | 1.73 | 1.30 | n/a | No Hit | |||
| COT1_HUMAN | -0.26 | 2.19 | 1.67 | n/a | No Hit | |||
| EP300_HUMAN | 1.02 | 0.37 | 1.61 | n/a | n/a | |||
| ESR1_HUMAN | 0.49 | 0.56 | 1.63 | n/a | No Hit |
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Motif analysis
No data available
Genetic associations
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Artery_Aorta, Artery_Tibial, Brain_Caudate_basal_ganglia, Brain_Cortex, Brain_Frontal_Cortex_BA9, Brain_Hippocampus, Breast_Mammary_Tissue, Cells_Cultured_fibroblasts, Colon_Sigmoid, Colon_Transverse, Esophagus_Gastroesophageal_Junction, Esophagus_Mucosa, Esophagus_Muscularis, Heart_Atrial_Appendage, Heart_Left_Ventricle, Lung, Minor_Salivary_Gland, Muscle_Skeletal, Nerve_Tibial, Pituitary, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Spleen, Testis, Thyroid, Whole_Blood