rs11168244 chr12:47809158 C>T

Sequence
cagtgtttgccccaacaggaagca[C/T]agtcaccgccccaggctgcctcta
ASB in cell types
GM12892 (female B-cells lymphoblastoid cell line) GM12878 (female B-cells lymphoblastoid cell line)
ASB for transcription factors
STAG1_HUMAN CTCF_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 (T) ASB

Details

Uniprot ID
Effect size Ref
Effect size Alt
FDR Ref
FDR Alt
Mean BAD
Motif fold change
Motif concordance
STAG1_HUMAN 1.67 -1.12 0.031.00 1.00 n/a n/a
CTCF_HUMAN 1.01 0.38 0.031.00 1.22 -1.83 Weak Concordant
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Motif analysis

CTCF_HUMAN Weak Concordant
CTCF_HUMAN pic

Genetic associations

EMBL-EBI diastolic blood pressure,  systolic blood pressure
GTEx eQTL Adipose_Subcutaneous,  Adipose_Visceral_Omentum,  Adrenal_Gland,  Artery_Aorta,  Artery_Coronary,  Artery_Tibial,  Brain_Cerebellum,  Breast_Mammary_Tissue,  Cells_Cultured_fibroblasts,  Colon_Transverse,  Esophagus_Gastroesophageal_Junction,  Esophagus_Mucosa,  Esophagus_Muscularis,  Heart_Atrial_Appendage,  Lung,  Muscle_Skeletal,  Nerve_Tibial,  Pituitary,  Prostate,  Skin_Not_Sun_Exposed_Suprapubic,  Skin_Sun_Exposed_Lower_leg,  Spleen,  Testis,  Thyroid,  Whole_Blood

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