rs760462 chr21:44908184 T>C

Sequence
gctggaggacccaaagccgctccc[T/C]gtgggacgcaaaattgagaaatga
ASB in cell types
CD14+ monocytes GM12878 (female B-cells lymphoblastoid cell line)
ASB for transcription factors
STAT1_HUMAN IKZF2_HUMAN SMCA4_HUMAN FOXK2_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 (C) ASB

Details

Uniprot ID
Effect size Ref
Effect size Alt
FDR Ref
FDR Alt
Mean BAD
Motif fold change
Motif concordance
STAT1_HUMAN n/a 3.31 1.001.3·10-5 3.00 n/a No Hit
IKZF2_HUMAN -0.54 2.03 1.007.2·10-3 1.00 n/a n/a
SMCA4_HUMAN -1.29 1.87 1.000.02 1.00 n/a n/a
FOXK2_HUMAN n/a 2.19 1.000.05 1.00 n/a n/a
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Motif analysis

No data available

Genetic associations

GRASP coronary artery disease (cad),  iga nephropathy
GTEx eQTL Adipose_Subcutaneous,  Adrenal_Gland,  Artery_Aorta,  Artery_Tibial,  Cells_Cultured_fibroblasts,  Colon_Sigmoid,  Colon_Transverse,  Esophagus_Gastroesophageal_Junction,  Esophagus_Mucosa,  Esophagus_Muscularis,  Lung,  Muscle_Skeletal,  Nerve_Tibial,  Skin_Not_Sun_Exposed_Suprapubic,  Skin_Sun_Exposed_Lower_leg,  Small_Intestine_Terminal_Ileum,  Spleen,  Stomach,  Thyroid,  Whole_Blood

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