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 3.53 Concordant
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 No Hit
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Motif analysis

ZN519_HUMAN Concordant
ZN519_HUMAN pic

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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