rs2672770 chr5:308945 A>C
- Sequence
cagcactcaccacccggcaccggg[A/C]cagctgactcagcacgtgccgttt
- ASB in cell types
- Ishikawa (endometrial adenocarcinoma) A549 (lung carcinoma) thyroid gland
- ASB for transcription factors
- CTCF_HUMAN MAFK_HUMAN MAX_HUMAN USF1_HUMAN
View in PheLiGe Color scale
-log10 FDR of Ref (A) 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 | 0.45 | 1.16 | 1.11 | n/a | No Hit | |||
| MAFK_HUMAN | 1.83 | n/a | 1.94 | -2.68 | Concordant | |||
| MAX_HUMAN | -1.97 | 1.89 | 1.33 | n/a | No Hit | |||
| USF1_HUMAN | -1.40 | 1.73 | 1.33 | 1.77 | Weak Concordant |
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Motif analysis
Genetic associations
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Adrenal_Gland, Artery_Aorta, Artery_Coronary, Artery_Tibial, Brain_Anterior_cingulate_cortex_BA24, Brain_Caudate_basal_ganglia, Brain_Cerebellar_Hemisphere, Brain_Cerebellum, Brain_Frontal_Cortex_BA9, Breast_Mammary_Tissue, Cells_Cultured_fibroblasts, Colon_Sigmoid, Colon_Transverse, Esophagus_Gastroesophageal_Junction, Esophagus_Mucosa, Esophagus_Muscularis, Heart_Atrial_Appendage, Heart_Left_Ventricle, Lung, Muscle_Skeletal, Nerve_Tibial, Ovary, Pancreas, Pituitary, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Spleen, Stomach, Testis, Thyroid, Whole_Blood