rs5994293 chr22:30356707 G>T

Sequence
cccaggccaaccctccggctgcag[G/T]ctgaggggcgggggagaggtacct
ASB in cell types
HEK293 (embryonic kidney) WA09 (embryonic stem cells)
ASB for transcription factors
HCFC1_HUMAN STAG1_HUMAN
Search SNPs nearby
View in UCSC Genome Browser
View in PheLiGe

Color scale

color scale ref
-log10 FDR of Ref (G) 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
HCFC1_HUMAN 1.16 n/a 9.7·10-31.00 2.50 n/a n/a
STAG1_HUMAN 0.93 0.59 0.041.00 1.00 n/a n/a
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Motif analysis

No data available

Genetic associations

GRASP hdl cholesterol,  total cholesterol change with statins
GTEx eQTL Adipose_Subcutaneous,  Adrenal_Gland,  Artery_Aorta,  Artery_Tibial,  Brain_Anterior_cingulate_cortex_BA24,  Brain_Caudate_basal_ganglia,  Brain_Cerebellar_Hemisphere,  Brain_Cerebellum,  Brain_Frontal_Cortex_BA9,  Brain_Hippocampus,  Breast_Mammary_Tissue,  Cells_Cultured_fibroblasts,  Colon_Sigmoid,  Colon_Transverse,  Esophagus_Mucosa,  Esophagus_Muscularis,  Heart_Atrial_Appendage,  Heart_Left_Ventricle,  Lung,  Muscle_Skeletal,  Nerve_Tibial,  Pancreas,  Prostate,  Skin_Not_Sun_Exposed_Suprapubic,  Skin_Sun_Exposed_Lower_leg,  Small_Intestine_Terminal_Ileum,  Testis,  Thyroid,  Whole_Blood

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