rs9988580 chr1:44730955 C>T
- Sequence
aaaaaaataaaaaacgcacactca[C/T]accattacaacagcccaaaataaa
- ASB in cell types
- HEK293 (embryonic kidney) MCF7 (Invasive ductal breast carcinoma) HEK293T (embryonic kidney) HepG2 (hepatoblastoma)
- ASB for transcription factors
- BRCA1_HUMAN ZN157_HUMAN CREB1_HUMAN TBX3_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 | |
|---|---|---|---|---|---|---|---|---|
| BRCA1_HUMAN | -3.32 | 2.47 | 1.50 | n/a | n/a | |||
| ZN157_HUMAN | -2.17 | 2.25 | 2.00 | n/a | n/a | |||
| CREB1_HUMAN | 1.01 | -0.58 | 1.60 | n/a | No Hit | |||
| TBX3_HUMAN | 1.57 | -1.62 | 1.33 | -5.51 | Concordant | |||
| ZIC2_HUMAN | -1.83 | 1.90 | 2.00 | n/a | n/a |
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Motif analysis
Genetic associations
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Artery_Tibial, Brain_Caudate_basal_ganglia, Brain_Cerebellum, Brain_Cortex, Brain_Nucleus_accumbens_basal_ganglia, Brain_Putamen_basal_ganglia, Breast_Mammary_Tissue, Colon_Transverse, Esophagus_Gastroesophageal_Junction, Esophagus_Mucosa, Esophagus_Muscularis, Heart_Left_Ventricle, Lung, Muscle_Skeletal, Nerve_Tibial, Pancreas, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Spleen, Testis, Thyroid, Whole_Blood