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 4.06 Concordant
MXI1_HUMAN -2.42 2.42 1.001.6·10-11 1.00 5.30 Concordant
MYCN_HUMAN -0.37 2.44 1.001.7·10-9 1.00 2.43 Concordant
MYC_HUMAN -0.21 2.14 1.008.5·10-8 2.11 5.23 Concordant
LIN9_HUMAN 3.18 -2.85 1.7·10-71.00 1.00 n/a n/a
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Motif analysis

MAD4_HUMAN Concordant
MAD4_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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