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rs2974929 chr1:155227477 T>C

Sequence
gggcgggactggagaatggggccc[T/C]gcgcactaggcgcggaagtcaaga
ASB in cell types
HepG2 (hepatoblastoma) HeLa (cervical adenocarcinoma) HeLa S3 (cervical adenocarcinoma) HeLa-LTR-Luciferase cells
ASB for transcription factors
NRF1_HUMAN PKNX1_HUMAN INT11_HUMAN NELFA_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
NRF1_HUMAN 2.30 -0.32 3.0·10-91.00 1.52 -2.47 Concordant
PKNX1_HUMAN 1.20 -1.23 4.9·10-61.00 1.50 n/a No Hit
INT11_HUMAN -0.40 1.54 1.006.8·10-6 1.69 n/a n/a
NELFA_HUMAN n/a 3.31 1.001.7·10-3 2.00 n/a n/a
TBX21_HUMAN 1.52 -1.10 6.0·10-31.00 1.00 n/a No Hit
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Motif analysis

NRF1_HUMAN Concordant
NRF1_HUMAN pic

Genetic associations

EMBL-EBI blood urea nitrogen levels
Finemapping renal function related traits bun
GTEx eQTL Adipose_Subcutaneous Adipose_Visceral_Omentum Adrenal_Gland Artery_Aorta Artery_Coronary Artery_Tibial Brain_Cerebellar_Hemisphere Brain_Cerebellum Brain_Cortex Brain_Frontal_Cortex_BA9 Brain_Putamen_basal_ganglia Brain_Substantia_nigra Breast_Mammary_Tissue Cells_Cultured_fibroblasts Cells_EBV-transformed_lymphocytes Colon_Sigmoid Colon_Transverse Esophagus_Gastroesophageal_Junction Esophagus_Mucosa Esophagus_Muscularis Heart_Atrial_Appendage Heart_Left_Ventricle Liver Lung Minor_Salivary_Gland Muscle_Skeletal Nerve_Tibial Ovary Pancreas Pituitary Prostate Skin_Not_Sun_Exposed_Suprapubic Skin_Sun_Exposed_Lower_leg Small_Intestine_Terminal_Ileum Spleen Stomach Testis Thyroid Vagina Whole_Blood

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