rs3761759 chr5:142108799 G>C

Sequence
ccccaggggccgcgtcggagcctc[G/C]gcggcggcggcggtgcttacagcc
ASB in cell types
tibial nerve HepG2 (hepatoblastoma) fetal bone marrow-derived mononuclear cells breast tumor
ASB for transcription factors
TYY1_HUMAN CTCF_HUMAN KMT2A_HUMAN ESR1_HUMAN

Color scale

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

Details

Uniprot ID
Effect size Ref
Effect size Alt
FDR Ref
FDR Alt
Mean BAD
Motif fold change
Motif concordance
TYY1_HUMAN 0.16 3.88 0.814.8·10-7 1.33 n/a No Hit
CTCF_HUMAN 1.96 0.79 6.0·10-51.00 1.25 n/a No Hit
KMT2A_HUMAN 2.08 -0.00 0.051.00 1.10 -2.32 Concordant
ESR1_HUMAN 2.28 -0.07 0.051.00 1.90 n/a No Hit
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Motif analysis

KMT2A_HUMAN Concordant
KMT2A_HUMAN pic

Genetic associations

GTEx eQTL Adipose_Subcutaneous,  Brain_Anterior_cingulate_cortex_BA24,  Brain_Cerebellum,  Brain_Cortex,  Brain_Frontal_Cortex_BA9,  Brain_Nucleus_accumbens_basal_ganglia,  Brain_Putamen_basal_ganglia,  Heart_Left_Ventricle,  Muscle_Skeletal,  Skin_Not_Sun_Exposed_Suprapubic,  Whole_Blood

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