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rs606452 chr11:75565133 A>C

Sequence
gtatcccaggaacagagactgtcc[A/C]aattggaggccccagagagggaac
ASB in cell types
K562 (myelogenous leukemia)
ASB for transcription factors
IKZF1_HUMAN

Color scale

color scale ref
-log10 FDR of Ref (A) 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
IKZF1_HUMAN -1.28 1.73 1.000.02 2.00 n/a No Hit
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Motif analysis

No data available

Genetic associations

EMBL-EBI coronary artery disease height hip circumference adjusted for bmi waist circumference adjusted for bmi (joint analysis main effects and physical activity interaction) waist circumference adjusted for bmi in active individuals waist circumference adjusted for body mass index
GRASP coronary artery disease (cad) height height (females) ldl cholesterol neuroticism sporadic creutzfeldt-jakob disease
PheWAS abnormal findings on radiological examination intrathoracic organs abnormal results of function studies adverse effects of hormones and synthetic substitutes adverse effects of insulins and antidiabetic agents adverse effects of sedatives or other central nervous system depressants and anesthetics angina pectoris angiodysplasia of intestine atrial flutter atrophic gastritis bacterial infection nos benign neoplasm of uterus cardiac and circulatory congenital anomalies cardiac shunt/ heart septal defect cellulitis and abscess of foot/toes cellulitis and abscess of trunk central/nonobstroctive sleep apnea cholesteatoma chronic ischemic heart disease chronic kidney disease, stage i or ii chronic venous insufficiency coronary atherosclerosis disease of capillaries disorders of diaphragm disorders of lipoid metabolism disorders of refraction and accommodation elevated blood pressure reading epistaxis or throat hemorrhage essential hypertension fever of unknown origin fracture of hand or wrist fracture of vertebral column without mention of spinal cord injury gangrene glossitis heart failure hereditary and idiopathic peripheral neuropathy hyperlipidemia hypertension hypotension nos intervertebral disc disorder with myelopathy ischemic heart disease lack of coordination liver replaced by transplant loose body in joint menopausal & postmenopausal disorders multiple sclerosis myopia nerve plexus lesions nerve root and plexus disorders nevus, non-neoplastic noninfectious dermatoses of eyelid noninfectious disorders of lymphatic channels nonsenile cataract obesity open wound of ear osteochondropathies overweight pathologic fracture phlebitis and thrombophlebitis pneumonia postmenopausal bleeding proteinuria sacroiliitis nec seborrhea secondary hyperparathyroidism (of renal origin) sepsis sepsis and sirs stress incontinence, female superficial cellulitis and abscess symptomatic menopause type 1 diabetes nephropathy ulceration of intestine varicose veins varicose veins of lower extremity varicose veins of lower extremity, symptomtic
GTEx eQTL Cells_Cultured_fibroblasts Testis

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