rs17361805 chr1:46348295 C>T

Sequence
ccacctcctggacgtctgtcctta[C/T]gacctctgctggccggttcagaaa
ASB in cell types
HEK293 (embryonic kidney) MCF7 (Invasive ductal breast carcinoma) SH-SY5Y (neuroblastoma) HEK293T (embryonic kidney)
ASB for transcription factors
CTCF_HUMAN PKNX1_HUMAN STAT1_HUMAN RAD21_HUMAN

Color scale

color scale ref
-log10 FDR of Ref (C) ASB
color scale alt
-log10 FDR of Alt (T) ASB

Details

Uniprot ID
Effect size Ref
Effect size Alt
FDR Ref
FDR Alt
Mean BAD
Motif fold change
Motif concordance
CTCF_HUMAN 1.73 0.25 2.9·10-701.00 1.57 -1.20 Weak Concordant
PKNX1_HUMAN 2.48 -4.79 1.8·10-41.00 2.00 n/a No Hit
STAT1_HUMAN 2.29 -3.98 8.0·10-41.00 2.00 n/a No Hit
RAD21_HUMAN 0.99 -0.33 8.9·10-41.00 1.54 n/a n/a
PRD10_HUMAN 3.38 n/a 1.3·10-31.00 2.00 n/a n/a
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Motif analysis

CTCF_HUMAN Weak Concordant
CTCF_HUMAN pic

Genetic associations

GRASP college completion,  hdl cholesterol,  major depressive disorder,  years of education
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_Hippocampus,  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,  Prostate,  Skin_Not_Sun_Exposed_Suprapubic,  Skin_Sun_Exposed_Lower_leg,  Spleen,  Testis,  Thyroid,  Whole_Blood

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