rs140002 chr22:36529450 A>G

Sequence
aatcgaagctcgaggcggggagcg[A/G]ctggcgcccttctgtgtcccacaa
ASB in cell types
fetal bone marrow-derived mononuclear cells HCASMC (Human coronary artery smooth muscle cells)
ASB for transcription factors
KMT2A_HUMAN TCF21_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
KMT2A_HUMAN 1.03 3.71 0.483.3·10-4 1.25 2.20 Concordant
TCF21_HUMAN n/a 2.90 1.006.5·10-3 2.50 4.02 Concordant
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Motif analysis

KMT2A_HUMAN Concordant
KMT2A_HUMAN pic

Genetic associations

GRASP autism
GTEx eQTL Artery_Tibial Muscle_Skeletal

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