rs3745648 chr19:12832824 G>C

Sequence
ccccgtcgtccagcaggggtcgct[G/C]ttacccagcgaccgcgccctccgg
ASB in cell types
HEK293 (embryonic kidney) D54 (H54, Human glioblastoma) HBMEC (human brain microvascular endothelial cells) TF-1 (erythroleukemia)
ASB for transcription factors
CTCF_HUMAN GLIS1_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
CTCF_HUMAN 0.72 1.23 1.003.2·10-4 1.24 -0.40 Weak Discordant
GLIS1_HUMAN -1.62 2.55 1.000.03 2.00 -0.22 Weak Discordant
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Motif analysis

GLIS1_HUMAN Weak Discordant
GLIS1_HUMAN pic

Genetic associations

GRASP aortic valve calcium,  ldl cholesterol,  mitral annular calcium
GTEx eQTL Cells_Cultured_fibroblasts,  Esophagus_Mucosa,  Esophagus_Muscularis,  Muscle_Skeletal,  Nerve_Tibial,  Skin_Sun_Exposed_Lower_leg,  Testis,  Whole_Blood

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