rs11747475 chr5:146405359 G>A

Sequence
gagacaatcacgatgtcatgtgtt[G/A]attgagttgtatacttttccactg
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 3.92 n/a 1.2·10-71.00 1.00 -4.22 Concordant
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Motif analysis

DUX4_HUMAN Concordant
DUX4_HUMAN pic

Genetic associations

GRASP ldl cholesterol,  obesity with early age of onset (age >2),  parkinsons disease,  schizophrenia,  sporadic creutzfeldt-jakob disease,  triglycerides
GTEx eQTL Adipose_Subcutaneous,  Testis

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