rs12030654 chr1:156751240 T>A
- Sequence
agagccggagacctacaagccccc[T/A]gcccccacctctgcccgctccgcg
- ASB in cell types
- HEK293 (embryonic kidney) K562 (myelogenous leukemia) thoracic aorta GM12878 (female B-cells)
- ASB for transcription factors
- CTCF_HUMAN GLIS1_HUMAN ZXDB_HUMAN
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-log10 FDR of Ref (T) 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 | |
|---|---|---|---|---|---|---|---|---|
| CTCF_HUMAN | 0.72 | 0.36 | 1.28 | n/a | No Hit | |||
| GLIS1_HUMAN | 2.06 | -1.64 | 2.00 | n/a | n/a | |||
| ZXDB_HUMAN | 2.14 | -1.97 | 2.00 | n/a | n/a |
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Motif analysis
No data available
Genetic associations
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Artery_Aorta, Artery_Tibial, Brain_Spinal_cord_cervical_c-1, Breast_Mammary_Tissue, Colon_Sigmoid, Colon_Transverse, Esophagus_Gastroesophageal_Junction, Esophagus_Muscularis, Heart_Atrial_Appendage, Heart_Left_Ventricle, Lung, Muscle_Skeletal, Nerve_Tibial, Pancreas, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Spleen, Thyroid