rs6511720 chr19:11091630 G>T

Sequence
caccaatcaacctcttccttaaga[G/T]aaaatgttaaggaagtcttaggca
ASB in cell types
GM12878 (female B-cells lymphoblastoid cell line) 22RV1 (prostate carcinoma)
ASB for transcription factors
ANDR_HUMAN

Color scale

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

Details

Uniprot ID
Effect size Ref
Effect size Alt
FDR Ref
FDR Alt
Mean BAD
Motif fold change
Motif concordance
ANDR_HUMAN 2.30 -4.89 5.4·10-31.00 2.50 n/a No Hit
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Motif analysis

No data available

Genetic associations

EMBL-EBI abdominal aortic aneurysm cardiovascular disease risk factors carotid intima media thickness cholesterol, total coronary artery disease coronary artery disease (myocardial infarction, percutaneous transluminal coronary angioplasty, coronary artery bypass grafting, angina or chromic ischemic heart disease) ldl cholesterol lipid metabolism phenotypes lipoprotein phospholipase a2 activity in cardiovascular disease lipoprotein-associated phospholipase a2 activity and mass low density lipoprotein cholesterol levels medication use (hmg coa reductase inhibitors) metabolite levels parental longevity (combined parental attained age, martingale residuals) total cholesterol levels
GRASP alpha-tocopherol plasma levels apob (apolipoprotein b) apob (apolipoprotein b) response after 40mg daily simvastatin treatment apob assay lipoprotein fraction concentration apob assay lipoprotein fraction concentration in fasting sample carotid artery plaque common carotid artery intima media thickness (imt) coronary artery disease (cad) hdl cholesterol hdl3 cholesterol height internal carotid artery intima media thickness (imt) ldl cholesterol ldl cholesterol (baseline) ldl cholesterol (female) ldl cholesterol (male) ldl cholesterol (mmol/l) ldl cholesterol among a group where cancer, diabetes, hyper/hypothyroidism and ldl-altering medications were not present ldl cholesterol change with statins ldl cholesterol exam 1 values ldl cholesterol large lipoprotein fraction concentration ldl cholesterol large lipoprotein fraction concentration in fasting sample ldl cholesterol lipoprotein fraction concentration ldl cholesterol lipoprotein fraction concentration in fasting sample ldl cholesterol response after 40mg daily simvastatin treatment ldl cholesterol response to statins (fractional change in ldl cholesterol) ldl cholesterol total lipoprotein fraction concentration ldl cholesterol total lipoprotein fraction concentration in fasting sample lipoprotein-associated phospholipase a2 activity (lp-pla2) lp-pla2 activity lp-pla2 mass metabolic syndrome domains (atherogenic dyslipidemia - pc1) metabolic syndrome domains (atherogenic dyslipidemia - pc2) metabolic syndrome domains (multivariate analysis) presence of carotid artery plaque tetrology of fallot total cholesterol total cholesterol (exam 1) total cholesterol to hdl cholesterol ratio vldl cholesterol small lipoprotein fraction concentration vldl cholesterol small lipoprotein fraction concentration in fasting sample
PheWAS abnormal results of function studies allergy to serum or vaccine allergy/adverse effect of penicillin angina pectoris atrial fibrillation & flutter bladder cancer bladder cancer and neoplasms blood in stool carcinoma in situ of skin cardiac arrest & ventricular fibrillation cardiac arrhythmia nos carditis cerebral atherosclerosis chorioretinal scars chronic lymphocytic thyroiditis chronic venous insufficiency coagulation defects coma stupor and brain damage complications of gastrostomy, colostomy and enterostomy congenital anomalies of peripheral vascular system congenital anomalies of posterior segment of eye congenital musculoskeletal anomalies corneal edema dermatosis nos develomental delays and disorders diseases of the jaws diseases of white blood cells disorders of lipoid metabolism diverticulitis diverticulosis and diverticulitis dysmetabolic syndrome x edema functional digestive disorders gastrointestinal hemorrhage heart transplant/surgery heartburn hematuria hemorrhagic disorder due to intrinsic circulating anticoagulants hypercholesterolemia hyperlipidemia hypocalcemia ileostomy status intracranial hemorrhage (injury) joint/ligament sprain labyrinthitis macular degeneration, wet malignant neoplasm of renal pelvis mechanical complications of cardiac/vascular device, implant, and graft mixed hyperlipidemia muscular wasting and disuse atrophy noninfectious gastroenteritis noninflammatory disorders of cervix noninflammatory disorders of ovary, fallopian tube, & broad ligament noninflammatory female genital disorders occlusion and stenosis of precerebral arteries osteoarthrosis osteoarthrosis nos osteoarthrosis, generalized osteoarthrosis localized, primary other arthropathies other conditions of brain, nos other dermatoses other disorders of eye other disorders of metabolic, endocrine, immunity disorders other headache syndromes other peripheral nerve disorders pain in limb palpitations pericarditis poisoning by antibiotics psoriasis & related disorders psoriasis vulgaris reflux esophagitis renal colic renal dialysis retinal detachments and defects retinal edema and hypertensive retinopathy shock temporomandibular joint disorders transient alteration of awareness unspecified local infection of skin and subcutaneous tissue unspecified monoarthritis venous embolism & thrombosis vitamin b-complex deficiencies vitamin d deficiency voice disturbance
Finemapping ldl cholesterol
GTEx eQTL Esophagus_Mucosa Muscle_Skeletal

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