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rs2721051 chr13:40536747 C>T

Sequence
agccaaatatcctgccagccagca[C/T]ggacctgctcccaagaatcatgtg
ASB in cell types
HepG2 (hepatoblastoma) MDA-MB-453 (breast adenocarcinoma)
ASB for transcription factors
FOXA1_HUMAN

Color scale

color scale ref
-log10 FDR of Ref (C) 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
FOXA1_HUMAN 2.30 -3.18 4.5·10-31.00 1.75 n/a No Hit
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Motif analysis

No data available

Genetic associations

EMBL-EBI central corneal thickness corneal hysteresis corneal resistance factor corneal structure intraocular pressure
GRASP asthma central corneal thickness central corneal thickness in patients with an iop <= 21mmhg and no history of iop>= 21mmhg keratoconus and primary open-angle glaucoma ldl cholesterol change with statins total cholesterol change with statins tourettes syndrome
PheWAS abnormal findings on study of brain, nervous system abnormal pulmonary function abnormal results of function study of liver abnormal tumor markers, elevated cea or ca 125 acid-base balance disorder acne acquired deformities of limbs acute posthemorrhagic anemia adrenal hyperfunction anal and rectal polyp anemia of chronic disease aphakia and other disorders of lens arthropathy associated with neurological disorders benign neoplasm of other parts of digestive system bronchiectasis calcaneal spur exostosis nos carcinoma in situ of skin cardiac defibrillator in situ chronic pancreatitis cysts of the jaws degenerative disease of the spinal cord dementia with cerebral degenerations diabetes mellitus disorders of cervical region disorders of other cranial nerves disorders of vitreous body dyspepsia and disorders of function of stomach early or threatened labor hemorrhage in early pregnancy hemorrhage from gastrointestinal ulcer infection/inflammation of internal prosthetic device, implant or graft injuries to the nervous system lichen magnesium metabolism disorder megaloblastic anemia methicillin resistant staphylococcus aureus myoclonus nasal polyps neck pain nerve root lesions noninfectious dermatoses of eyelid nontoxic nodular goiter oral aphthae other cerebral degenerations other disorders of stomach and duodenum other disorders of tympanic membrane paraproteinemia perforation of tympanic membrane pernicious anemia pernicious or b12 deficiency anemia schizoid personality disorder spondylolisthesis, congenital stomatitis and mucositis stress incontinence, female trigeminal nerve disorders type 1 diabetic neuropathy type 1 diabetic retinopathy type 2 diabetes type 2 diabetic neuropathy type 2 diabetic retinopathy viral infection vitamin d deficiency
GTEx eQTL Esophagus_Mucosa Skin_Sun_Exposed_Lower_leg

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