rs377470 chr12:49945507 T>G

Sequence
tcctctcctgccagccgcggcccg[T/G]ggctgctctcttcacttcgtcccg
ASB in cell types
HEK293 (embryonic kidney) K562 (myelogenous leukemia)
ASB for transcription factors
CTCF_HUMAN ZBT17_HUMAN
Search SNPs nearby
View in UCSC Genome Browser
View in PheLiGe

Color scale

color scale ref
-log10 FDR of Ref (T) 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
CTCF_HUMAN 0.78 0.50 5.7·10-41.00 1.24 n/a No Hit
ZBT17_HUMAN 2.81 -5.04 0.021.00 2.00 n/a No Hit
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Motif analysis

No data available

Genetic associations

GRASP infant head circumference,  refractive error
GTEx eQTL Adipose_Subcutaneous,  Adipose_Visceral_Omentum,  Adrenal_Gland,  Brain_Amygdala,  Brain_Anterior_cingulate_cortex_BA24,  Brain_Caudate_basal_ganglia,  Brain_Cerebellar_Hemisphere,  Brain_Cerebellum,  Brain_Cortex,  Brain_Frontal_Cortex_BA9,  Brain_Hippocampus,  Brain_Hypothalamus,  Brain_Nucleus_accumbens_basal_ganglia,  Brain_Putamen_basal_ganglia,  Brain_Substantia_nigra,  Heart_Atrial_Appendage,  Lung,  Nerve_Tibial,  Skin_Sun_Exposed_Lower_leg,  Spleen,  Stomach,  Testis,  Thyroid

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