rs3748631 chr1:222713246 G>A
- Sequence
ggccgttgtctggccacctctccc[G/A]ggttgacagtatcggctttccaca
- ASB in cell types
- fetal bone marrow-derived mononuclear cells breast tumor naive IgD+ B cells monocyte-derived macrophages from peripheral blood
- ASB for transcription factors
- KMT2A_HUMAN FOXP1_HUMAN SRBP2_HUMAN ANDR_HUMAN
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-log10 FDR of Ref (G) ASB
-log10 FDR of Alt (A) 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 | |
|---|---|---|---|---|---|---|---|---|
| KMT2A_HUMAN | 3.21 | n/a | 2.00 | -1.24 | Weak Concordant | |||
| FOXP1_HUMAN | 2.34 | 0.05 | 1.67 | n/a | No Hit | |||
| SRBP2_HUMAN | 2.41 | -1.65 | 2.00 | n/a | No Hit | |||
| ANDR_HUMAN | 2.44 | -0.34 | 1.75 | n/a | No Hit |
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Motif analysis
Genetic associations
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Artery_Aorta, Artery_Tibial, Brain_Amygdala, Brain_Caudate_basal_ganglia, Brain_Cerebellar_Hemisphere, Brain_Cerebellum, Brain_Frontal_Cortex_BA9, Brain_Hypothalamus, Brain_Putamen_basal_ganglia, Breast_Mammary_Tissue, Cells_Cultured_fibroblasts, Colon_Sigmoid, Colon_Transverse, Esophagus_Gastroesophageal_Junction, Esophagus_Mucosa, Esophagus_Muscularis, Heart_Atrial_Appendage, Lung, Muscle_Skeletal, Nerve_Tibial, Pancreas, Pituitary, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Spleen, Thyroid, Whole_Blood