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rs298977 chr4:118698681 G>A

Sequence
cagggtttctatcttgggataggt[G/A]gattgaattatcaccaactgagag
ASB in cell types
induced pluripotent stem cells
ASB for transcription factors
DUX4_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
DUX4_HUMAN -1.97 2.00 1.002.0·10-3 1.00 1.50 Weak Concordant
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Motif analysis

DUX4_HUMAN Weak Concordant
DUX4_HUMAN pic

Genetic associations

GRASP mitral annular calcium obesity with early age of onset (age >2) serum creatinine
GTEx eQTL Adipose_Subcutaneous Artery_Aorta Artery_Tibial Brain_Amygdala Brain_Anterior_cingulate_cortex_BA24 Brain_Caudate_basal_ganglia Brain_Cerebellar_Hemisphere Brain_Cortex Brain_Frontal_Cortex_BA9 Brain_Hippocampus Brain_Hypothalamus Brain_Nucleus_accumbens_basal_ganglia Brain_Putamen_basal_ganglia Brain_Substantia_nigra Cells_Cultured_fibroblasts Colon_Transverse Esophagus_Gastroesophageal_Junction Esophagus_Mucosa Esophagus_Muscularis Heart_Left_Ventricle Liver Lung Muscle_Skeletal Nerve_Tibial Pancreas Pituitary Skin_Not_Sun_Exposed_Suprapubic Skin_Sun_Exposed_Lower_leg Stomach Testis Thyroid Whole_Blood

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