rs3752290 chr20:38926473 G>C

Sequence
ctgctgtccgagggcctggacgag[G/C]tgcccgccgcctgcctgtcgccgt
ASB in cell types
K562 (myelogenous leukemia) fetal bone marrow-derived mononuclear cells
ASB for transcription factors
KMT2A_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
KMT2A_HUMAN 2.85 -0.31 0.011.00 1.62 -0.39 Weak Concordant
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Motif analysis

KMT2A_HUMAN Weak Concordant
KMT2A_HUMAN pic

Genetic associations

GRASP chronic kidney disease,  microalbuminuria
GTEx eQTL Adipose_Subcutaneous,  Adipose_Visceral_Omentum,  Artery_Aorta,  Artery_Coronary,  Artery_Tibial,  Brain_Cortex,  Breast_Mammary_Tissue,  Cells_Cultured_fibroblasts,  Colon_Sigmoid,  Colon_Transverse,  Esophagus_Gastroesophageal_Junction,  Esophagus_Mucosa,  Esophagus_Muscularis,  Heart_Atrial_Appendage,  Liver,  Lung,  Nerve_Tibial,  Pituitary,  Prostate,  Skin_Not_Sun_Exposed_Suprapubic,  Skin_Sun_Exposed_Lower_leg,  Spleen,  Stomach,  Testis,  Thyroid,  Whole_Blood

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