rs13255193 chr8:11451683 T>C

Sequence
gacctgagcttggccagtcagctg[T/C]tcaggccccgactctgaattgggt
ASB in cell types
MCF7 (Invasive ductal breast carcinoma) TMD8 (diffuse large B-cell lymphoma)
ASB for transcription factors
PAX2_HUMAN ITF2_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
PAX2_HUMAN 2.91 -1.15 4.7·10-41.00 2.00 n/a No Hit
ITF2_HUMAN 1.85 0.05 0.011.00 1.67 1.95 Weak Discordant
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Motif analysis

ITF2_HUMAN Weak Discordant
ITF2_HUMAN pic

Genetic associations

EMBL-EBI systolic blood pressure x alcohol consumption (light vs heavy) interaction (2df test)
GTEx eQTL Adipose_Subcutaneous,  Adipose_Visceral_Omentum,  Adrenal_Gland,  Artery_Aorta,  Artery_Coronary,  Artery_Tibial,  Brain_Anterior_cingulate_cortex_BA24,  Brain_Caudate_basal_ganglia,  Brain_Cerebellar_Hemisphere,  Brain_Cerebellum,  Brain_Cortex,  Brain_Frontal_Cortex_BA9,  Brain_Hippocampus,  Brain_Hypothalamus,  Brain_Nucleus_accumbens_basal_ganglia,  Brain_Putamen_basal_ganglia,  Breast_Mammary_Tissue,  Cells_Cultured_fibroblasts,  Colon_Sigmoid,  Colon_Transverse,  Esophagus_Gastroesophageal_Junction,  Esophagus_Mucosa,  Esophagus_Muscularis,  Heart_Atrial_Appendage,  Heart_Left_Ventricle,  Lung,  Minor_Salivary_Gland,  Muscle_Skeletal,  Nerve_Tibial,  Pancreas,  Pituitary,  Prostate,  Skin_Not_Sun_Exposed_Suprapubic,  Skin_Sun_Exposed_Lower_leg,  Small_Intestine_Terminal_Ileum,  Spleen,  Stomach,  Testis,  Thyroid,  Whole_Blood

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