rs6089804 chr20:64285790 T>C
- Sequence
ccttagctgccagcaggtgtcata[T/C]gggcaccacaccatgagcaagagg
- ASB in cell types
- GM12878 (female B-cells lymphoblastoid cell line) ID00014 (lymphoblastoid cell, DiGeorge syndrome) 2588 (Lymphoblastoid Cell Lines) GM12892 (female B-cells lymphoblastoid cell line)
- ASB for transcription factors
- CTCF_HUMAN STAG1_HUMAN SMCA5_HUMAN TRI22_HUMAN
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-log10 FDR of Ref (T) ASB
-log10 FDR of Alt (C) 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 | 3.19 | -0.27 | 1.57 | 1.84 | Weak Discordant | |||
| STAG1_HUMAN | 3.47 | -2.94 | 1.25 | n/a | n/a | |||
| SMCA5_HUMAN | 4.54 | n/a | 1.00 | n/a | No Hit | |||
| TRI22_HUMAN | 3.34 | n/a | 1.50 | n/a | n/a | |||
| IKZF2_HUMAN | 2.90 | -1.18 | 1.00 | n/a | n/a |
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Motif analysis
Genetic associations
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Artery_Aorta, Artery_Tibial, Brain_Cerebellar_Hemisphere, Breast_Mammary_Tissue, Colon_Sigmoid, Colon_Transverse, Esophagus_Gastroesophageal_Junction, Esophagus_Mucosa, Esophagus_Muscularis, Lung, Muscle_Skeletal, Nerve_Tibial, Ovary, Pancreas, Skin_Sun_Exposed_Lower_leg, Spleen, Stomach, Thyroid, Whole_Blood