rs2535423 chr12:576325 C>G
- Sequence
ggcgaggccccagctcaacccgcc[C/G]gcgcgggcacacccgggctttgac
- ASB in cell types
- HEK293 (embryonic kidney) HEK293T (embryonic kidney) 786-O (renal carcinoma) H1 (embryonic stem cells)
- ASB for transcription factors
- ZFHX2_HUMAN GLIS2_HUMAN CTCF_HUMAN PATZ1_HUMAN
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-log10 FDR of Ref (C) ASB
-log10 FDR of Alt (G) 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 | |
|---|---|---|---|---|---|---|---|---|
| ZFHX2_HUMAN | 2.53 | n/a | 2.00 | n/a | n/a | |||
| GLIS2_HUMAN | 2.75 | n/a | 2.00 | n/a | n/a | |||
| CTCF_HUMAN | 0.98 | 0.38 | 1.33 | 3.69 | Discordant | |||
| PATZ1_HUMAN | 2.38 | n/a | 2.00 | n/a | No Hit | |||
| SP2_HUMAN | 1.84 | n/a | 2.00 | -0.37 | 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_Amygdala, Brain_Anterior_cingulate_cortex_BA24, Brain_Caudate_basal_ganglia, Brain_Cerebellar_Hemisphere, Brain_Cerebellum, Brain_Cortex, Brain_Frontal_Cortex_BA9, Brain_Hippocampus, Brain_Hypothalamus, Brain_Nucleus_accumbens_basal_ganglia, Brain_Putamen_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, Lung, Minor_Salivary_Gland, Muscle_Skeletal, Nerve_Tibial, Ovary, Pancreas, Pituitary, Prostate, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Small_Intestine_Terminal_Ileum, Spleen, Stomach, Testis, Thyroid, Vagina, Whole_Blood