rs62410442 chr3:179322855 C>G
- Sequence
cggggctcgggaggggctcttccc[C/G]gcccagaaggagactgcggcggcg
- ASB in cell types
- MDA-MB-231-1833 (breast cancer cells, bone-tropic metastatic line) CD34+ hematopoietic stem cells GM12865 (female B-cells) GM12871 (male B-cells)
- ASB for transcription factors
- CTCF_HUMAN TIF1B_HUMAN JUN_HUMAN CDN1B_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 | |
|---|---|---|---|---|---|---|---|---|
| CTCF_HUMAN | 1.06 | 0.50 | 1.32 | -0.82 | Weak Concordant | |||
| TIF1B_HUMAN | 3.47 | n/a | 2.00 | n/a | n/a | |||
| JUN_HUMAN | 1.59 | n/a | 4.33 | n/a | No Hit | |||
| CDN1B_HUMAN | 1.90 | -0.22 | 4.00 | 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_Caudate_basal_ganglia, Brain_Cerebellar_Hemisphere, Brain_Cerebellum, Brain_Cortex, Brain_Frontal_Cortex_BA9, Brain_Hippocampus, Brain_Hypothalamus, Brain_Substantia_nigra, Breast_Mammary_Tissue, Cells_Cultured_fibroblasts, Colon_Sigmoid, Colon_Transverse, Esophagus_Gastroesophageal_Junction, Esophagus_Mucosa, Esophagus_Muscularis, Heart_Atrial_Appendage, Lung, Nerve_Tibial, Pituitary, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Spleen, Stomach, Thyroid, Whole_Blood