rs4768587 chr12:39145452 C>T

Sequence
cgtgttcgcggccggctcagggtc[C/T]ggcgctgaggacgcgtgtgcgggg
ASB in cell types
upper lobe of left lung WA01 (H1, human embryonic stem cells)
ASB for transcription factors
CTCF_HUMAN EZH2_HUMAN TIF1B_HUMAN

Color scale

color scale ref
-log10 FDR of Ref (C) ASB
color scale alt
-log10 FDR of Alt (T) ASB

Details

Uniprot ID
Effect size Ref
Effect size Alt
FDR Ref
FDR Alt
Mean BAD
Motif fold change
Motif concordance
CTCF_HUMAN -1.25 3.43 1.003.5·10-9 1.00 n/a No Hit
EZH2_HUMAN 1.97 -1.77 1.6·10-31.00 1.00 n/a n/a
TIF1B_HUMAN 2.06 n/a 0.031.00 1.00 n/a n/a
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Motif analysis

No data available

Genetic associations

GRASP advanced age-related macular degeneration (choroidal neovascularization) vs. no amd,  hdl cholesterol
GTEx eQTL Brain_Anterior_cingulate_cortex_BA24,  Brain_Caudate_basal_ganglia,  Brain_Cortex,  Brain_Frontal_Cortex_BA9,  Brain_Hypothalamus,  Brain_Putamen_basal_ganglia,  Cells_Cultured_fibroblasts,  Skin_Sun_Exposed_Lower_leg,  Whole_Blood

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