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rs1036429 chr12:95877650 T>C

Sequence
actttaaagggaccctcaactgaa[T/C]gaagaataataagtcaatccctgc
ASB in cell types
K562 (myelogenous leukemia)

Color scale

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

Details

Cell type
Effect size Ref
Effect size Alt
FDR Ref
FDR Alt
Mean BAD
K562 (myelogenous leukemia) 0.79 0.01 4.3·10-31.00 2.01
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Motif analysis

No data available

Genetic associations

EMBL-EBI pulmonary function pulmonary function (smoking interaction)
GRASP adiponectin levels decrease in fev1 (in asthmatic participants) diastolic blood pressure (dbp) ldl cholesterol lung function, forced expiratory volume in 1 second (fev1) percent change (in asthmatic participants) lung function, ratio of forced expiratory volume in 1 second (fev1) to forced vital capacity (fvc) (fev1/fvc) lung function, ratio of forced expiratory volume in 1 second (fev1) to forced vital capacity (fvc) (fev1/fvc), in ever smokers lung function, ratio of forced expiratory volume in 1 second (fev1) to forced vital capacity (fvc) (fev1/fvc), in nonsmokers (never smokers) neuroblastoma (brain cancer)
PheWAS abnormal heart sounds acute cystitis adverse effects of antilipemic and antiarteriosclerotic drugs anisometropia bacterial enteritis bacterial infection nos benign mammary dysplasias breast disorder nos cardiomegaly cholangitis claw toe complex regional/central pain syndrome congenital cataract and lens anomalies constipation develomental delays and disorders diseases of nail diseases of respiratory system diseases of sebaceous glands diseases of white blood cells epiphora erectile dysfunction esophageal atresia/tracheoesophageal fistula exostosis of jaw fracture of hand or wrist fracture of unspecified bones gastritis and duodenitis gingivitis gross hematuria hallucinations heart transplant/surgery intestinal infection intestinal infection due to c. difficile light-headedness and vertigo macular degeneration, dry osteochondropathies other diseases of the teeth and supporting structures other disorders of eye other specified diseases of nail other specified peripheral vascular diseases paroxysmal ventricular tachycardia pathological, developmental or recurrent dislocation periostitis peripheral or central vertigo pulmonary congestion and hypostasis respiratory complications sebaceous cyst spondylolisthesis, congenital sprains and strains symptoms involving respiratory system testicular dysfunction testicular hypofunction urinary obstruction vertiginous syndromes and other disorders of vestibular system
GTEx eQTL Adipose_Subcutaneous Breast_Mammary_Tissue Liver Lung Nerve_Tibial Skin_Sun_Exposed_Lower_leg Stomach Testis Thyroid

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