rs947636 chr1:56825875 A>G

Sequence
atacctcaaactaaacaagaccat[A/G]atttaatcaatgatctgaccccca
ASB in cell types
iPSC (induced pluripotent stem cells)
ASB for transcription factors
DUX4_HUMAN

Color scale

color scale ref
-log10 FDR of Ref (A) 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 3.32 -3.46 3.9·10-51.00 1.00 -4.84 Concordant
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Motif analysis

DUX4_HUMAN Concordant
DUX4_HUMAN pic

Genetic associations

GRASP autism,  hdl cholesterol,  hip bone mineral density (bmd),  hypertension (early onset hypertension),  ldl cholesterol,  spine bone mineral density (bmd),  triglycerides,  waist hip ratio
GTEx eQTL Pituitary,  Testis

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