rs7410601 chr22:49923539 C>T
- Sequence
aaaacccaggaactccctggagag[C/T]gcaccctgctggtgcctccactgc
- ASB in cell types
- GM12878 (female B-cells lymphoblastoid cell line) gastroesophageal sphincter
- ASB for transcription factors
- CTCF_HUMAN ZN687_HUMAN ZIC2_HUMAN TRI22_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 | |
|---|---|---|---|---|---|---|---|---|
| CTCF_HUMAN | 3.63 | -5.17 | 1.33 | -1.24 | Weak Concordant | |||
| ZN687_HUMAN | 2.33 | -3.96 | 1.50 | n/a | n/a | |||
| ZIC2_HUMAN | 2.19 | n/a | 2.00 | -0.00 | Weak Concordant | |||
| TRI22_HUMAN | 2.56 | n/a | 1.00 | n/a | n/a |
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Motif analysis
Genetic associations
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Adrenal_Gland, Artery_Aorta, Artery_Coronary, Artery_Tibial, Brain_Cerebellar_Hemisphere, Brain_Cerebellum, Brain_Hippocampus, Brain_Hypothalamus, Brain_Nucleus_accumbens_basal_ganglia, Breast_Mammary_Tissue, Cells_Cultured_fibroblasts, Cells_EBV-transformed_lymphocytes, Colon_Sigmoid, Colon_Transverse, Esophagus_Gastroesophageal_Junction, Esophagus_Mucosa, Esophagus_Muscularis, Heart_Atrial_Appendage, Heart_Left_Ventricle, Liver, Lung, Muscle_Skeletal, Nerve_Tibial, Pancreas, Prostate, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Small_Intestine_Terminal_Ileum, Spleen, Stomach, Testis, Thyroid, Uterus, Whole_Blood