rs3756766 chr5:138337478 A>C

Sequence
ccccacctccccgcacctcccccc[A/C]ggcaaacgcaagcaactgaaccgc
ASB in cell types
GM12878 (female B-cells lymphoblastoid cell line) K562 (myelogenous leukemia)
ASB for transcription factors
CREB1_HUMAN FOXK2_HUMAN GABP1_HUMAN
Search SNPs nearby
View in UCSC Genome Browser
View in PheLiGe

Color scale

color scale ref
-log10 FDR of Ref (A) 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
CREB1_HUMAN 1.09 -0.27 1.0·10-31.00 1.65 n/a No Hit
FOXK2_HUMAN 0.32 3.03 0.681.6·10-3 1.62 n/a No Hit
GABP1_HUMAN -0.35 1.74 0.941.9·10-3 1.67 n/a n/a
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Motif analysis

No data available

Genetic associations

EMBL-EBI normal facial asymmetry (deformation magnitude),  schizophrenia
GRASP advanced age-related macular degeneration,  aortic valve calcium,  refractive error
GTEx eQTL Adipose_Subcutaneous,  Artery_Aorta,  Artery_Tibial,  Brain_Cerebellum,  Brain_Cortex,  Cells_EBV-transformed_lymphocytes,  Colon_Sigmoid,  Esophagus_Gastroesophageal_Junction,  Esophagus_Mucosa,  Esophagus_Muscularis,  Heart_Atrial_Appendage,  Heart_Left_Ventricle,  Nerve_Tibial,  Skin_Sun_Exposed_Lower_leg

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