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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

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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