rs707916 chr6:31729781 G>A
- Sequence
ctggctggtcacgctgcccctagc[G/A]cgacctagtataaaccagaccgag
- ASB in cell types
- K562 (myelogenous leukemia) GM12878 (female B-cells lymphoblastoid cell line) HepG2 (hepatoblastoma) GM19238 (female B-cells lymphoblastoid cell lines)
- ASB for transcription factors
- CTCF_HUMAN MNT_HUMAN SMAD3_HUMAN MTG16_HUMAN
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-log10 FDR of Ref (G) ASB
-log10 FDR of Alt (A) 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 | 0.88 | 0.54 | 1.31 | -2.51 | Concordant | |||
| MNT_HUMAN | -0.14 | 1.24 | 3.00 | n/a | No Hit | |||
| SMAD3_HUMAN | 1.57 | -0.86 | 1.00 | n/a | No Hit | |||
| MTG16_HUMAN | n/a | 2.96 | 4.00 | n/a | n/a | |||
| ETV1_HUMAN | n/a | 2.87 | 3.00 | n/a | No Hit |
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Motif analysis
Genetic associations
GRASP abnormal involuntary movement scale, coronary artery disease (cad), diabetic retinopathy in type 2 diabetes mellitus, diastolic blood pressure (dbp), fasting insulin, hdl cholesterol, hdl cholesterol change with statins, rheumatoid arthritis, salmonella-induced pyroptosis, serum creatinine, systolic blood pressure (sbp)
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, Brain_Spinal_cord_cervical_c-1, 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, Pancreas, Pituitary, Prostate, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Small_Intestine_Terminal_Ileum, Spleen, Stomach, Testis, Thyroid, Vagina, Whole_Blood