rs9988580 chr1:44730955 C>T
- Sequence
aaaaaaataaaaaacgcacactca[C/T]accattacaacagcccaaaataaa
- ASB in cell types
- HEK293 (embryonic kidney) HepG2 (hepatoblastoma) K562 (myelogenous leukemia) primary human neonatal keratinocytes
- ASB for transcription factors
- BRD4_HUMAN TBX3_HUMAN ANM1_HUMAN BRCA1_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 | |
|---|---|---|---|---|---|---|---|---|
| BRD4_HUMAN | 1.06 | 1.13 | 1.34 | n/a | n/a | |||
| TBX3_HUMAN | 2.28 | -2.25 | 1.00 | -3.90 | Concordant | |||
| ANM1_HUMAN | 2.89 | -5.22 | 2.00 | n/a | n/a | |||
| BRCA1_HUMAN | -2.26 | 3.06 | 2.00 | n/a | n/a | |||
| ZN157_HUMAN | -2.11 | 2.90 | 2.00 | n/a | No Hit |
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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