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rs12938996 chr17:43361306 G>A

Sequence
actacacctcggaatccttccagc[G/A]atcaagggccagcaacaccacaag
ASB in cell types
GM12878 (female B-cells lymphoblastoid cell line) tibial nerve breast tumor CD4+ T-cells
ASB for transcription factors
CTCF_HUMAN ZN687_HUMAN ARNT_HUMAN ESR1_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
CTCF_HUMAN 1.25 0.49 2.5·10-131.00 1.11 n/a No Hit
ZN687_HUMAN 1.84 n/a 1.9·10-91.00 2.00 n/a n/a
ARNT_HUMAN 2.37 -2.13 8.1·10-41.00 1.00 n/a No Hit
ESR1_HUMAN 3.41 0.11 1.4·10-30.99 1.60 n/a No Hit
EP300_HUMAN 1.33 1.47 2.3·10-30.14 1.56 n/a n/a
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Motif analysis

No data available

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 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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