rs12196086 chr6:112154441 G>A

Sequence
ctaattgactcacagtgatgactc[G/A]ttccttcatgggaaacattttaaa
ASB in cell types
K562 (myelogenous leukemia) TTC-1240 (Rhabdoid tumor of the kidney)
ASB for transcription factors
ATF3_HUMAN SMCA4_HUMAN SMRC1_HUMAN ARI1B_HUMAN

Color scale

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

Details

Uniprot ID
Effect size Ref
Effect size Alt
FDR Ref
FDR Alt
Mean BAD
Motif fold change
Motif concordance
ATF3_HUMAN n/a 4.31 1.003.4·10-7 2.00 6.60 Concordant
SMCA4_HUMAN -0.14 1.84 1.004.9·10-3 1.08 n/a n/a
SMRC1_HUMAN -1.04 1.38 1.000.01 1.00 n/a n/a
ARI1B_HUMAN -4.75 2.65 1.000.03 2.00 n/a n/a
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Motif analysis

ATF3_HUMAN Concordant
ATF3_HUMAN pic

Genetic associations

GRASP aortic valve calcium,  refractive error
GTEx eQTL Adipose_Subcutaneous,  Adipose_Visceral_Omentum,  Adrenal_Gland,  Artery_Aorta,  Artery_Tibial,  Brain_Cerebellar_Hemisphere,  Breast_Mammary_Tissue,  Cells_Cultured_fibroblasts,  Colon_Sigmoid,  Colon_Transverse,  Esophagus_Gastroesophageal_Junction,  Esophagus_Mucosa,  Esophagus_Muscularis,  Heart_Left_Ventricle,  Liver,  Lung,  Minor_Salivary_Gland,  Muscle_Skeletal,  Nerve_Tibial,  Pancreas,  Pituitary,  Prostate,  Skin_Not_Sun_Exposed_Suprapubic,  Skin_Sun_Exposed_Lower_leg,  Stomach,  Testis,  Thyroid,  Vagina,  Whole_Blood

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