rs41293273 chr1:46340721 T>C

Sequence
ggagagcgtcagatgtatttcctt[T/C]cccttttttcgctcgtgtcccgcc
ASB in cell types
MDA-MB-231p27CK-DD (breast cancer cells, phosphimimetic p27 cell line) esophagus squamous epithelium CD14+ monocytes naive IgD+ B cells
ASB for transcription factors
CDN1B_HUMAN CTCF_HUMAN STAT1_HUMAN FOXP1_HUMAN

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
CDN1B_HUMAN -0.17 1.73 1.001.7·10-4 1.50 n/a n/a
CTCF_HUMAN 0.39 1.17 1.009.2·10-4 1.47 n/a No Hit
STAT1_HUMAN 1.52 0.14 1.1·10-31.00 2.00 -2.85 Concordant
FOXP1_HUMAN 2.82 -5.34 0.011.00 2.00 n/a No Hit
INT13_HUMAN -0.62 1.61 1.000.01 1.00 n/a n/a
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Motif analysis

PRDM1_HUMAN Concordant
PRDM1_HUMAN pic

Genetic associations

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_Hypothalamus,  Brain_Nucleus_accumbens_basal_ganglia,  Brain_Putamen_basal_ganglia,  Breast_Mammary_Tissue,  Cells_Cultured_fibroblasts,  Cells_EBV-transformed_lymphocytes,  Colon_Sigmoid,  Esophagus_Gastroesophageal_Junction,  Esophagus_Mucosa,  Esophagus_Muscularis,  Heart_Atrial_Appendage,  Heart_Left_Ventricle,  Lung,  Minor_Salivary_Gland,  Muscle_Skeletal,  Nerve_Tibial,  Pancreas,  Pituitary,  Skin_Not_Sun_Exposed_Suprapubic,  Skin_Sun_Exposed_Lower_leg,  Spleen,  Testis,  Thyroid,  Whole_Blood

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