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rs17125090 chr1:63523233 G>A

Sequence
aggaaacgccaaggcatgaaaagc[G/A]cgcgctggacgttgcgtcaagccc
ASB in cell types
HepG2 (hepatoblastoma) HEK293 (embryonic kidney) NCI-H2171 (small cell lung carcinoma) neural cell
ASB for transcription factors
MAX_HUMAN MXI1_HUMAN MYCN_HUMAN MYC_HUMAN

Color scale

color scale ref
-log10 FDR of Ref (G) ASB
color scale alt
-log10 FDR of Alt (A) ASB

Details

Uniprot ID
Effect size Ref
Effect size Alt
FDR Ref
FDR Alt
Mean BAD
Motif fold change
Motif concordance
MAX_HUMAN -1.00 2.58 1.005.1·10-21 1.25 3.64 Concordant
MXI1_HUMAN -2.42 2.42 1.001.6·10-11 1.00 3.60 Concordant
MYCN_HUMAN -0.37 2.44 1.001.7·10-9 1.00 2.81 Concordant
MYC_HUMAN -0.21 2.14 1.008.5·10-8 2.11 3.22 Concordant
LIN9_HUMAN 3.18 -2.85 1.7·10-71.00 1.00 n/a n/a
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Motif analysis

MAX_HUMAN Concordant
MAX_HUMAN pic

Genetic associations

GTEx eQTL Adipose_Subcutaneous Adipose_Visceral_Omentum Adrenal_Gland Artery_Aorta Artery_Coronary Artery_Tibial Brain_Amygdala 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 Brain_Spinal_cord_cervical_c-1 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 Kidney_Cortex 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 Uterus Vagina

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