rs554591 chr12:69360067 T>C
- Sequence
ctcttccggggtggctctcccgcc[T/C]cggttcctccctgcgcggcgcggg
- ASB in cell types
- HepG2 (hepatoblastoma) HEK293 (embryonic kidney) CTV-1 (Adult T acute lymphoblastic leukemia) GM12878 (female B-cells lymphoblastoid cell line)
- ASB for transcription factors
- ETV5_HUMAN E4F1_HUMAN LIN9_HUMAN ELF1_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 | |
|---|---|---|---|---|---|---|---|---|
| ETV5_HUMAN | 3.51 | n/a | 1.50 | 0.32 | Weak Discordant | |||
| E4F1_HUMAN | 2.81 | n/a | 1.75 | n/a | No Hit | |||
| LIN9_HUMAN | 2.24 | -1.31 | 1.00 | n/a | n/a | |||
| ELF1_HUMAN | 2.55 | -0.13 | 1.78 | n/a | No Hit | |||
| HNF4A_HUMAN | 2.87 | 0.25 | 1.75 | n/a | No Hit |
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Motif analysis
Genetic associations
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Adrenal_Gland, Artery_Aorta, Artery_Coronary, Artery_Tibial, Brain_Caudate_basal_ganglia, Brain_Cerebellum, Brain_Cortex, Brain_Hippocampus, 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, 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, Uterus, Vagina, Whole_Blood