rs1010460 chr14:20685464 G>A

Sequence
tataatcaagtcataatgtaatca[G/A]tagaaacccaagggacatcattat
ASB in cell types
iPSC (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 3.20 n/a 7.8·10-61.00 1.50 0.97 Weak Discordant
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Motif analysis

DUX4_HUMAN Weak Discordant
DUX4_HUMAN pic

Genetic associations

GTEx eQTL Adipose_Subcutaneous,  Artery_Aorta,  Artery_Tibial,  Brain_Nucleus_accumbens_basal_ganglia,  Breast_Mammary_Tissue,  Cells_Cultured_fibroblasts,  Colon_Transverse,  Esophagus_Gastroesophageal_Junction,  Esophagus_Mucosa,  Esophagus_Muscularis,  Heart_Left_Ventricle,  Lung,  Nerve_Tibial,  Pancreas,  Skin_Not_Sun_Exposed_Suprapubic,  Skin_Sun_Exposed_Lower_leg,  Testis,  Thyroid,  Whole_Blood

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