rs13120295 chr4:2963884 G>C

Sequence
ctcccctgctggtgagggcctgcg[G/C]aggcggcggcggcggcgcccttgg
ASB in cell types
adrenal gland 2588 (Lymphoblastoid Cell Lines) upper lobe of left lung glioblastoma cells
ASB for transcription factors
NRF1_HUMAN CTCF_HUMAN EGR1_HUMAN MNT_HUMAN

Color scale

color scale ref
-log10 FDR of Ref (G) 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 n/a 2.69 1.008.9·10-9 2.00 5.61 Concordant
CTCF_HUMAN 0.70 1.53 1.005.2·10-7 1.22 n/a No Hit
EGR1_HUMAN 1.95 -0.06 0.010.87 2.00 -3.49 Concordant
MNT_HUMAN 1.97 0.07 0.041.00 2.00 n/a No Hit
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Motif analysis

NRF1_HUMAN Concordant
NRF1_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_Hippocampus,  Breast_Mammary_Tissue,  Cells_Cultured_fibroblasts,  Colon_Sigmoid,  Colon_Transverse,  Esophagus_Gastroesophageal_Junction,  Esophagus_Mucosa,  Esophagus_Muscularis,  Kidney_Cortex,  Liver,  Lung,  Minor_Salivary_Gland,  Muscle_Skeletal,  Nerve_Tibial,  Ovary,  Pancreas,  Prostate,  Skin_Not_Sun_Exposed_Suprapubic,  Skin_Sun_Exposed_Lower_leg,  Small_Intestine_Terminal_Ileum,  Spleen,  Stomach,  Testis,  Thyroid,  Uterus,  Vagina,  Whole_Blood

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