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rs4305019 chr16:1983940 C>A

Sequence
cacggacggcgcaacccctgcgtg[C/A]gccgcggatcgacgcctgagggcg
ASB in cell types
HEK293 (embryonic kidney) GM12878 (female B-cells lymphoblastoid cell line) Kelly (neuroblastoma) 22RV1 (prostate carcinoma)
ASB for transcription factors
CTCF_HUMAN COT1_HUMAN ZN441_HUMAN ANDR_HUMAN

Color scale

color scale ref
-log10 FDR of Ref (C) 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
CTCF_HUMAN 1.20 0.71 4.1·10-111.00 1.23 n/a No Hit
COT1_HUMAN 1.38 -1.38 4.4·10-41.00 1.00 n/a No Hit
ZN441_HUMAN n/a 3.00 1.001.2·10-3 2.00 n/a n/a
ANDR_HUMAN 2.08 -2.75 1.9·10-31.00 2.50 n/a No Hit
CTCFL_HUMAN 1.52 n/a 0.021.00 1.00 n/a No Hit
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Motif analysis

BACH1_HUMAN Discordant
BACH1_HUMAN pic

Genetic associations

EMBL-EBI red cell distribution width
GTEx eQTL Adipose_Subcutaneous Adipose_Visceral_Omentum 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_Nucleus_accumbens_basal_ganglia Brain_Putamen_basal_ganglia 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 Ovary Pancreas Pituitary Skin_Not_Sun_Exposed_Suprapubic Skin_Sun_Exposed_Lower_leg Spleen Stomach Testis Thyroid Uterus Vagina Whole_Blood

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