rs1005165 chr19:45405792 C>T
- Sequence
tggccaggaatgcagtcgggtcac[C/T]ctgtctagccaccgtctcgcggct
- ASB in cell types
- HEK293 (embryonic kidney) MDA-MB-231-1833 (breast cancer cells, bone-tropic metastatic line) breast tumor adult erythroblasts
- ASB for transcription factors
- HCFC1_HUMAN ESR2_HUMAN CDN1B_HUMAN ESR1_HUMAN
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-log10 FDR of Ref (C) ASB
-log10 FDR of Alt (T) 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 | |
|---|---|---|---|---|---|---|---|---|
| HCFC1_HUMAN | 1.64 | n/a | 3.00 | n/a | n/a | |||
| ESR2_HUMAN | 2.74 | -4.97 | 2.00 | -2.90 | Concordant | |||
| CDN1B_HUMAN | 1.40 | -1.82 | 2.00 | n/a | n/a | |||
| ESR1_HUMAN | 1.75 | 0.30 | 1.75 | -0.75 | Weak Concordant | |||
| JUN_HUMAN | 2.28 | -0.21 | 1.92 | n/a | No Hit |
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Motif analysis
Genetic associations
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Adrenal_Gland, Artery_Aorta, Artery_Tibial, Brain_Cerebellum, Brain_Cortex, Cells_Cultured_fibroblasts, Colon_Transverse, Esophagus_Gastroesophageal_Junction, Esophagus_Mucosa, Esophagus_Muscularis, Heart_Atrial_Appendage, Heart_Left_Ventricle, Lung, Muscle_Skeletal, Nerve_Tibial, Ovary, Pancreas, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Spleen, Stomach, Testis, Thyroid