rs881375 chr9:120890620 T>C
- Sequence
cagctttcagataacagacaaaca[T/C]gtctttaacacacgcaatctttga
- ASB in cell types
- MOLT-4 (Adult T acute lymphoblastic leukemia)
- ASB for transcription factors
- SPT5H_HUMAN
View in PheLiGe Color scale
-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 | |
|---|---|---|---|---|---|---|---|---|
| SPT5H_HUMAN | -0.25 | 1.50 | 1.00 | n/a | n/a |
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Motif analysis
No data available
Genetic associations
GRASP advanced age-related macular degeneration (geographic atrophy), asthma, decrease in fev1/fvc ratio (in asthmatic participants), lung function, ratio of forced expiratory volume in 1 second (fev1) to forced vital capacity (fvc) (fev1/fvc) ratio percent predicted (in asthmatic participants), obesity with early age of onset (age >2), rheumatoid arthritis, serum creatinine, total cholesterol change with statins
PheWAS abdominal aortic aneurysm, abnormal kidney function, abnormality of red blood cells, acquired deformities of limbs, acquired toe deformities, adrenal hyperfunction, adrenal hypofunction, althetes foot, angina pectoris, antihypertensive agents causing adverse effects, atherosclerosis, atrial fibrillation, atrial fibrillation & flutter, bipolar, blood in stool, bundle branch block, cerebrovascular disease, cholecystitis without cholelithiasis, chorioretinal scars, chronic ischemic heart disease, chronic obstructive asthma with exacerbation, chronic sinusitis, clotting factor deficiency, congenital anomalies of great vessels, congenital musculoskeletal deformities of spine, coronary atherosclerosis, dementia with cerebral degenerations, discoid lupus erythematosus, disorders of esophageal motility, disorders of lipoid metabolism, disturbances of sensation of smell and taste, duodenal ulcer, enthesopathy, epistaxis or throat hemorrhage, fracture of clavicle or scapula, fracture of upper limb, gram negative septicemia, hammer toe, heart failure, heart valve replaced, hypercholesterolemia, hyperlipidemia, hypoglycemia, iatrogenic hypotension, ill-defined descriptions and complications of heart disease, infections involving bone, infestation, intestinal obstruction without mention of hernia, ischemic heart disease, liver abscess and sequelae of chronic liver disease, lower gastrointestinal congenital anomalies, malunion fracture, megaloblastic anemia, muscle weakness, muscular dystrophies and other myopathies, myocardial infarction, nasal polyps, nephritis & nephropathy, nonrheumatic tricuspid valve disorders, occlusion and stenosis of precerebral arteries, osteomyelitis, other hypertensive complications, other intestinal obstruction, other unspecified back disorders, pain, swelling or discharge of eye, partial epilepsy, pericarditis, peritoneal or intestinal adhesions, pernicious anemia, pityriasis, poisoning by agents affecting the cardiovascular system, polyarthropathy or polyarthritis involving multiple sites nos, premature beats, rheumatoid arthritis, rheumatoid arthritis & related inflammatory polyarthropathies, right bundle branch block, schizoid personality disorder, scleritis and episcleritis, sexually transmitted infections, symptoms involving cardiovascular system, syncope and collapse, systemic lupus erythematosus, testicular dysfunction, testicular hypofunction, thoracic neuritis/radiculitis, toxic effect of venom, traumatic arthropathy, type 1 diabetic retinopathy, ulceration of intestine, unspecified osteomyelitis, unspecified polyarthropathy or polyarthritis, unstable angina (intermediate coronary syndrome)
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, Brain_Substantia_nigra, 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