rs2992451 chr1:148308954 G>A

Sequence
tcgggaattgaacccgggccgcac[G/A]ggtgaaagcaccgaatcctagcca
ASB in cell types
hESC-1 (Embryonic stem cells)
ASB for transcription factors
TERT_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 (A) ASB

Details

Uniprot ID
Effect size Ref
Effect size Alt
FDR Ref
FDR Alt
Mean BAD
Motif fold change
Motif concordance
TERT_HUMAN -4.38 2.92 1.002.5·10-3 1.33 n/a n/a
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Motif analysis

No data available

Genetic associations

GRASP advanced age-related macular degeneration,  coronary artery disease (cad),  ldl cholesterol
GTEx eQTL Adipose_Subcutaneous,  Adrenal_Gland,  Artery_Coronary,  Artery_Tibial,  Brain_Caudate_basal_ganglia,  Brain_Cerebellar_Hemisphere,  Brain_Cerebellum,  Breast_Mammary_Tissue,  Cells_Cultured_fibroblasts,  Colon_Sigmoid,  Colon_Transverse,  Esophagus_Gastroesophageal_Junction,  Esophagus_Mucosa,  Esophagus_Muscularis,  Heart_Atrial_Appendage,  Heart_Left_Ventricle,  Lung,  Muscle_Skeletal,  Nerve_Tibial,  Pituitary,  Prostate,  Skin_Not_Sun_Exposed_Suprapubic,  Skin_Sun_Exposed_Lower_leg,  Spleen,  Thyroid,  Whole_Blood

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