rs114817585 chr1:161612689 A>G

Sequence
tcatacgctttgcttatcttatat[A/G]tagatttctaaaattccaaaccgg
ASB in cell types
K562 (myelogenous leukemia) GM12878 (female B-cells lymphoblastoid cell line)
ASB for transcription factors
EGR1_HUMAN MEF2D_HUMAN KDM1A_HUMAN MNT_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
EGR1_HUMAN 2.18 -0.88 0.011.00 2.00 n/a No Hit
MEF2D_HUMAN 2.84 n/a 0.021.00 3.00 -4.49 Concordant
KDM1A_HUMAN 1.60 -3.43 0.031.00 1.67 n/a n/a
MNT_HUMAN 1.41 -0.87 0.041.00 2.33 n/a n/a
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Motif analysis

MEF2D_HUMAN Concordant
MEF2D_HUMAN pic

Genetic associations

GTEx eQTL Skin_Not_Sun_Exposed_Suprapubic Skin_Sun_Exposed_Lower_leg Whole_Blood

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