rs7309888 chr12:70660635 C>T

Sequence
tgtacaagactgatgagactaaat[C/T]aatcaatataagtttcaaagcaga
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 (T) ASB

Details

Uniprot ID
Effect size Ref
Effect size Alt
FDR Ref
FDR Alt
Mean BAD
Motif fold change
Motif concordance
DUX4_HUMAN 3.17 -2.86 2.0·10-71.00 1.00 1.24 Weak Discordant
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Motif analysis

DUX4_HUMAN Weak Discordant
DUX4_HUMAN pic

Genetic associations

GRASP alzheimers disease,  fasting blood glucose,  hdl cholesterol,  irritible bowel syndrome,  ldl cholesterol,  primary rhegmatogenous retinal detachment
GTEx eQTL Brain_Cerebellar_Hemisphere,  Brain_Cerebellum,  Colon_Transverse,  Lung,  Skin_Sun_Exposed_Lower_leg,  Thyroid

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