rs62109499 chr19:40444153 G>T
- Sequence
cagaccccgcctccgcaagtcccc[G/T]gggcgcgcttctctctcccccagc
- ASB in cell types
- K562 (myelogenous leukemia) MCF7 (Invasive ductal breast carcinoma) breast tumor tissue
- ASB for transcription factors
- NRF1_HUMAN EGR1_HUMAN ESR1_HUMAN KDM1A_HUMAN
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-log10 FDR of Ref (G) 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 | |
|---|---|---|---|---|---|---|---|---|
| NRF1_HUMAN | n/a | 1.87 | 2.00 | 2.21 | Concordant | |||
| EGR1_HUMAN | -0.53 | 1.46 | 1.88 | n/a | No Hit | |||
| ESR1_HUMAN | 1.98 | -3.91 | 2.50 | n/a | No Hit | |||
| KDM1A_HUMAN | -1.43 | 1.85 | 2.00 | n/a | n/a |
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Motif analysis
Genetic associations
GTEx eQTL Adipose_Subcutaneous, Artery_Aorta, Artery_Tibial, Esophagus_Gastroesophageal_Junction, Esophagus_Mucosa, Esophagus_Muscularis, Heart_Atrial_Appendage, Heart_Left_Ventricle, Lung, Muscle_Skeletal, Nerve_Tibial, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Thyroid, Whole_Blood