rs2124069 chr5:43008608 A>G

Sequence
gacctcgagtgatccacccgcctc[A/G]gcctccctaagtgctaggattaca
ASB in cell types
neural cell upper lobe of left lung Th1-cells
ASB for transcription factors
KMT2A_HUMAN TBX21_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 -0.36 1.74 1.000.03 1.00 0.04 Weak Concordant
TBX21_HUMAN 1.37 -0.68 0.051.00 1.00 n/a No Hit
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Motif analysis

KMT2A_HUMAN Weak Concordant
KMT2A_HUMAN pic

Genetic associations

GTEx eQTL Artery_Aorta,  Artery_Tibial,  Brain_Caudate_basal_ganglia,  Esophagus_Mucosa,  Lung,  Muscle_Skeletal,  Nerve_Tibial,  Spleen,  Testis,  Whole_Blood

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