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rs897984 chr16:30875322 T>C

Sequence
gtgcagccctgcgcactgctgagg[T/C]tgcccgaggtctcagcctcggcgg
ASB in cell types
K562 (myelogenous leukemia) HEK293T (embryonic kidney) CD34+ hematopoietic stem cells tibial nerve
ASB for transcription factors
TIF1B_HUMAN CTCF_HUMAN ZN519_HUMAN STAG1_HUMAN

Color scale

color scale ref
-log10 FDR of Ref (T) 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
TIF1B_HUMAN 0.39 3.65 0.641.0·10-3 1.67 n/a n/a
CTCF_HUMAN 0.32 1.63 1.001.3·10-3 1.29 n/a No Hit
ZN519_HUMAN -5.22 3.04 1.007.7·10-3 2.00 n/a n/a
STAG1_HUMAN 1.25 1.78 0.030.85 1.00 n/a n/a
ZN577_HUMAN 2.41 -2.01 0.041.00 1.00 n/a n/a
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Motif analysis

No data available

Genetic associations

EMBL-EBI dementia with lewy bodies
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 Brain_Spinal_cord_cervical_c-1 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 Whole_Blood

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