rs11709550 chr3:151402074 C>G

Sequence
taaagaccaatgtacaaatgcaat[C/G]aattatgtacctatatgtaaaatg
ASB in cell types
iPSC (induced pluripotent stem cells)
ASB for transcription factors
DUX4_HUMAN

Color scale

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

Details

Uniprot ID
Effect size Ref
Effect size Alt
FDR Ref
FDR Alt
Mean BAD
Motif fold change
Motif concordance
DUX4_HUMAN 3.25 n/a 6.6·10-51.00 1.00 -4.50 Concordant
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Motif analysis

DUX4_HUMAN Concordant
DUX4_HUMAN pic

Genetic associations

GRASP abnormal involuntary movement scale,  rheumatoid arthritis,  systolic blood pressure (sbp),  type 1 diabetes
GTEx eQTL Adipose_Subcutaneous,  Adipose_Visceral_Omentum,  Adrenal_Gland,  Artery_Aorta,  Artery_Coronary,  Artery_Tibial,  Breast_Mammary_Tissue,  Cells_Cultured_fibroblasts,  Colon_Sigmoid,  Colon_Transverse,  Esophagus_Gastroesophageal_Junction,  Esophagus_Mucosa,  Esophagus_Muscularis,  Heart_Atrial_Appendage,  Heart_Left_Ventricle,  Lung,  Nerve_Tibial,  Pancreas,  Pituitary,  Prostate,  Skin_Not_Sun_Exposed_Suprapubic,  Skin_Sun_Exposed_Lower_leg,  Small_Intestine_Terminal_Ileum,  Spleen,  Stomach,  Testis,  Thyroid,  Whole_Blood

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