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 n/a No Hit
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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