rs805304 chr6:31730311 T>G
- Sequence
acgcccattccgccctgctaagcc[T/G]cgcccattacatccagactgcgcc
- ASB in cell types
- K562 (myelogenous leukemia) GM12891 (male B- cells lymphoblastoid cell line) HepG2 (hepatoblastoma)
- ASB for transcription factors
- RFOX2_HUMAN SOX6_HUMAN STAG1_HUMAN VEZF1_HUMAN
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-log10 FDR of Ref (T) 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 | |
|---|---|---|---|---|---|---|---|---|
| RFOX2_HUMAN | -3.50 | 2.01 | 2.75 | n/a | n/a | |||
| SOX6_HUMAN | n/a | 3.14 | 3.00 | n/a | No Hit | |||
| STAG1_HUMAN | 1.66 | 0.10 | 1.00 | n/a | n/a | |||
| VEZF1_HUMAN | n/a | 1.54 | 3.00 | -0.52 | Weak Discordant |
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Motif analysis
Genetic associations
GRASP diabetic retinopathy in type 2 diabetes mellitus, diastolic blood pressure (dbp), fasting insulin, hdl cholesterol, hdl cholesterol change with statins, hypertension, 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