rs4808135 chr19:18504460 C>G

Sequence
catctgaaattgccatgtacatct[C/G]atccctgtcacgttcatctctgcc
ASB in cell types
HepG2 (hepatoblastoma) RCC4 (kidney cancer cell line)
ASB for transcription factors
HIF1A_HUMAN EPAS1_HUMAN E2F8_HUMAN
Search SNPs nearby
View in UCSC Genome Browser
View in PheLiGe

Color scale

color scale ref
-log10 FDR of Ref (C) 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
HIF1A_HUMAN -3.45 3.48 1.002.4·10-6 1.25 2.30 Concordant
EPAS1_HUMAN -2.13 2.48 1.000.01 1.50 n/a No Hit
E2F8_HUMAN -1.42 1.96 1.000.02 1.50 n/a No Hit
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Motif analysis

HIF1A_HUMAN Concordant
HIF1A_HUMAN pic

Genetic associations

GRASP ldl cholesterol,  salmonella-induced pyroptosis,  schizophrenia,  total cholesterol
GTEx eQTL Adipose_Subcutaneous,  Adipose_Visceral_Omentum,  Artery_Aorta,  Artery_Tibial,  Brain_Nucleus_accumbens_basal_ganglia,  Breast_Mammary_Tissue,  Cells_Cultured_fibroblasts,  Colon_Sigmoid,  Esophagus_Mucosa,  Esophagus_Muscularis,  Heart_Left_Ventricle,  Lung,  Muscle_Skeletal,  Nerve_Tibial,  Skin_Not_Sun_Exposed_Suprapubic,  Skin_Sun_Exposed_Lower_leg,  Spleen,  Stomach,  Thyroid,  Whole_Blood

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