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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