rs12635698 chr3:16366982 T>C

Sequence
caaacttgaggactgtacaagtct[T/C]tctatgtcccagggtgggaggcat
ASB in cell types
GM12878 (female B-cells lymphoblastoid cell line)
ASB for transcription factors
STAG1_HUMAN

Color scale

color scale ref
-log10 FDR of Ref (T) ASB
color scale alt
-log10 FDR of Alt (C) ASB

Details

Uniprot ID
Effect size Ref
Effect size Alt
FDR Ref
FDR Alt
Mean BAD
Motif fold change
Motif concordance
STAG1_HUMAN -1.00 2.95 1.001.8·10-4 1.00 n/a n/a
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Motif analysis

No data available

Genetic associations

EMBL-EBI obesity (extreme)
GRASP comorbid depressive syndrome and alcohol dependence extreme obesity (body mass index (bmi)) glaucoma (normal pressure glaucoma)
PheWAS abnormal coagulation profile abnormal electrocardiogram acquired deformities of finger acquired foot deformities acquired toe deformities acute bronchitis and bronchiolitis anal and rectal conditions anal and rectal polyp anemia of chronic disease ankylosis of joint anxiety disorder atherosclerosis atherosclerosis of the extremities atrial fibrillation atrial fibrillation & flutter benign neoplasm of other parts of digestive system benign neoplasm of uterus biliary cirrhosis blood vessel replaced bronchitis cardiac conduction disorders cardiac congenital anomalies cardiac dysrhythmias cardiac pacemaker/device in situ cardiac shunt/ heart septal defect cerebral atherosclerosis cervical radiculitis chondrocalcinosis choroidal degenerations congenital anomalies of limbs congenital deformities of feet crystal arthropathies curvature of spine delirium due to conditions classified elsewhere diseases of blood and blood-forming organs diseases of lips diseases of the oral soft tissues disorders of conjunctiva disorders of menstruation disorders of synovium, tendon, and bursa dysmetabolic syndrome x encounter for long-term use of anticoagulants/antithrombotics exophthalmos femoral hernia flat foot gout and other crystal arthropathies gross hematuria hammer toe hydronephrosis hypopotassemia impetigo inflammation of the eye inflammatory and toxic neuropathy inflammatory bowel disease insulin pump user intervertebral disc disorders irregular menstrual cycle/bleeding kidney replaced by transpant kyphosis (acquired) left bundle branch block lipoprotein disorders mastoiditis menopausal & postmenopausal disorders mental retardation morbid obesity muscle weakness nephritis & nephropathy nonallopathic lesions nec obesity osteoarthrosis osteoarthrosis of multiple sites other conditions of brain other disorders of back pain in joint pain in limb palpitations peripheral angiopathy in diseases classified elsewhere peripheral enthesopathies peritoneal adhesions (postoperative) (postinfection) phobia poisoning by other anti-infectives postmenopausal bleeding postmenopausal hormone replacement pruritus and related conditions psoriasis psoriasis & related disorders psoriasis vulgaris retinal hemorrhage/ischemia secondary malignant neoplasm of liver secondary thrombocytopenia streptococcus infection sulfonamides symptomatic menopause symptoms involving nervous and musculoskeletal systems type 2 diabetic peripheral circulatory disorders unstable angina (intermediate coronary syndrome) varicose veins of lower extremity, symptomtic
GTEx eQTL Brain_Cerebellum

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