rs9897606 chr17:64497049 A>G

Sequence
accactaccgttaacagaatccgg[A/G]gaggccacggcgcaggcgcaacgg
ASB in cell types
HEK293 (embryonic kidney) fetal bone marrow-derived mononuclear cells breast tumor Th1-cells
ASB for transcription factors
KMT2A_HUMAN ESR1_HUMAN ZNF76_HUMAN ZN394_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 -0.17 2.76 0.931.1·10-4 1.12 1.80 Weak Concordant
ESR1_HUMAN 3.34 n/a 4.2·10-41.00 2.00 n/a No Hit
ZNF76_HUMAN -2.33 2.73 1.001.2·10-3 1.00 0.09 Weak Concordant
ZN394_HUMAN -5.54 3.21 1.004.0·10-3 2.00 n/a No Hit
ZFHX2_HUMAN -3.60 2.20 1.006.5·10-3 1.50 n/a n/a
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Motif analysis

KMT2A_HUMAN Weak Concordant
KMT2A_HUMAN pic

Genetic associations

GRASP adiponectin levels,  chronic kidney disease,  systolic blood pressure (sbp)
GTEx eQTL Adipose_Visceral_Omentum,  Artery_Tibial,  Breast_Mammary_Tissue,  Colon_Sigmoid,  Colon_Transverse,  Esophagus_Muscularis,  Heart_Atrial_Appendage,  Lung,  Muscle_Skeletal,  Nerve_Tibial,  Skin_Not_Sun_Exposed_Suprapubic,  Skin_Sun_Exposed_Lower_leg,  Thyroid,  Whole_Blood

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