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rs242557 chr17:45942346 G>A

Sequence
aaagcagttggcttcgcccagggt[G/A]caccaggacacggttttggctctg
ASB in cell types
K562 (myelogenous leukemia)

Color scale

color scale ref
-log10 FDR of Ref (G) ASB
color scale alt
-log10 FDR of Alt (A) ASB

Details

Cell type
Effect size Ref
Effect size Alt
FDR Ref
FDR Alt
Mean BAD
K562 (myelogenous leukemia) 1.07 -0.80 0.041.00 2.00
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Motif analysis

No data available

Genetic associations

EMBL-EBI atrial fibrillation plasma t-tau levels progressive supranuclear palsy
GRASP 2 hour glucose alzheimers disease height hip bone mineral density (bmd) infant head circumference ldl cholesterol parkinsons disease progressive supranuclear palsy years of education
PheWAS abnormal cytological, histological, immunological and dna test findings abnormal pulmonary function abnormal tumor markers, elevated cea or ca 125 acute upper respiratory infections adverse drug events and drug allergies adverse effects of hormones and synthetic substitutes adverse effects of insulins and antidiabetic agents alcohol-related disorders alcoholic liver damage alcoholism allergic reaction to food anisometropia ankylosis of joint anticoagulants causing adverse effects benign neoplasm of colon breast cancer breast cancer, including in situ cachexia cancer, suspected or other cardiomyopathy cataract cellulitis and abscess of leg chronic bronchitis chronic cystitis chronic lymphoid leukemia chronic pain syndrome chronic venous hypertension conduct disorders cornea replaced by transplant corneal opacity decreased libido degenerative disease of the spinal cord dental caries diabetic retinopathy diseases of hard tissues of teeth diseases of the salivary glands disorders of cornea disorders of other cranial nerves disorders of sacrum disturbances of sensation of smell and taste elevated levels of transaminase or lactic acid dehydrogenase endometriosis eustachian tube disorders femoral hernia gingivitis gross hematuria heartburn hematemesis hemoptysis hyperosmolality and/or hypernatremia hypertension complicating pregnancy hyperventilation impacted cerumen infection of the eye intracranial hemorrhage (injury) keratitis, infectious lupus erythematosus macular puckering of retina mechanical complications of cardiac/vascular device, implant, and graft mental disorders due to brain damage migraine neck pain nephritis and nephropathy in diseases classified elsewhere neurological disorders due to brain damage noninfectious disorders of lymphatic channels nonrheumatic mitral valve disorders occlusion of cerebral arteries occlusion of cerebral arteries, with cerebral infarction open wound of hand except finger(s) open wounds of extremities osteoarthrosis, generalized osteopenia otalgia other disorders of back other disorders of soft tissues other hypertrophic and atrophic conditions of skin other nonmalignant breast conditions other specified disorders of breast other specified nonpsychotic and/or transient mental disorders pain in limb pallor and flushing poisoning by agents primarily affecting blood constituents polyarthropathy or polyarthritis involving multiple sites nos polycythemia vera, secondary primary open angle glaucoma primary/intrinsic cardiomyopathies prurigo psoriasis schizophrenia schizophrenia and other psychotic disorders shock sprains and strains subarachnoid hemorrhage (injury) subdural hemorrhage subdural hemorrhage (injury) superficial cellulitis and abscess swelling, mass, or lump in head and neck symptoms involving head and neck thoracic neuritis/radiculitis trigeminal nerve disorders type 1 diabetes type 2 diabetic nephropathy uveitis
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 Kidney_Cortex 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

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