rs4660928 chr1:46420268 A>C

Sequence
acgctcaactctaaacttactgtg[A/C]cttcctcatttgtacaatcatcac
ASB in cell types
K562 (myelogenous leukemia) CTV-1 (Adult T acute lymphoblastic leukemia) TALL1 (T-Acute Lymphoblastic Leukemia)
ASB for transcription factors
ARI1B_HUMAN SPI1_HUMAN MIER1_HUMAN MTG16_HUMAN

Color scale

color scale ref
-log10 FDR of Ref (A) 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
ARI1B_HUMAN 2.10 -2.10 9.4·10-111.00 1.00 n/a n/a
SPI1_HUMAN 2.67 -0.44 2.5·10-91.00 1.29 -2.41 Concordant
MIER1_HUMAN 3.16 -2.82 1.0·10-51.00 1.00 n/a n/a
MTG16_HUMAN 1.55 -1.55 1.2·10-41.00 1.00 n/a n/a
CTBP1_HUMAN 3.24 -2.98 1.5·10-41.00 1.00 n/a n/a
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Motif analysis

E4F1_HUMAN Weak Discordant
E4F1_HUMAN pic

Genetic associations

GRASP alcohol consumption,  obesity with early age of onset (age >2),  tetrology of fallot
GTEx eQTL Adipose_Subcutaneous,  Adipose_Visceral_Omentum,  Adrenal_Gland,  Artery_Aorta,  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,  Lung,  Minor_Salivary_Gland,  Muscle_Skeletal,  Nerve_Tibial,  Pancreas,  Pituitary,  Prostate,  Skin_Not_Sun_Exposed_Suprapubic,  Skin_Sun_Exposed_Lower_leg,  Small_Intestine_Terminal_Ileum,  Spleen,  Stomach,  Testis,  Thyroid,  Whole_Blood

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