rs4804429 chr19:9312239 C>T

Sequence
tctgttatgcctggacagagccac[C/T]agagggctccctggtctagcggta
ASB in cell types
K562 (myelogenous leukemia) GM18951 (B-cells Lymphoblastoid Cell Lines) GM10847 (female B-cells Lymphoblastoid Cell Lines) pancreas
ASB for transcription factors
CTCF_HUMAN STAG1_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 0.87 1.71 1.001.3·10-56 1.41 -0.27 Weak Discordant
STAG1_HUMAN 0.97 2.17 1.001.9·10-5 2.03 n/a n/a
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Motif analysis

CTCF_HUMAN Weak Discordant
CTCF_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,  Whole_Blood

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