rs76124218 chr17:75588360 G>C
- Sequence
caacgcgcagcgtcagggacgcgg[G/C]cccaggggcggccgcggggggcgc
- ASB in cell types
- GM12878 (female B-cells lymphoblastoid cell line) THP-1 (acute monocytic leukemia) esophagus muscularis mucosa gastroesophageal sphincter
- ASB for transcription factors
- CTCF_HUMAN ELF1_HUMAN IKZF2_HUMAN ZN592_HUMAN
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-log10 FDR of Ref (G) 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 | 0.37 | 1.39 | 1.54 | 1.67 | Weak Concordant | |||
| ELF1_HUMAN | n/a | 3.74 | 1.00 | n/a | No Hit | |||
| IKZF2_HUMAN | -0.40 | 3.26 | 1.00 | n/a | n/a | |||
| ZN592_HUMAN | -2.43 | 2.54 | 1.00 | n/a | n/a |
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Motif analysis
Genetic associations
GTEx eQTL Adipose_Visceral_Omentum, Adrenal_Gland, Artery_Tibial, Cells_Cultured_fibroblasts, Cells_EBV-transformed_lymphocytes, Colon_Transverse, Esophagus_Gastroesophageal_Junction, Esophagus_Mucosa, Esophagus_Muscularis, Heart_Atrial_Appendage, Heart_Left_Ventricle, Lung, Nerve_Tibial, Pancreas, Prostate, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Small_Intestine_Terminal_Ileum, Spleen, Stomach, Testis, Thyroid, Whole_Blood