rs132919 chr22:41413899 G>C

Sequence
ggcggccggcacggcgggcgcgga[G/C]ggggccgcgctggtgtcaccagga
ASB in cell types
HEK293 (embryonic kidney) fetal bone marrow-derived mononuclear cells
ASB for transcription factors
ZN398_HUMAN KMT2A_HUMAN GLIS2_HUMAN

Color scale

color scale ref
-log10 FDR of Ref (G) 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
ZN398_HUMAN 1.84 n/a 8.3·10-91.00 2.00 n/a n/a
KMT2A_HUMAN -4.69 2.71 1.000.02 1.50 n/a n/a
GLIS2_HUMAN 1.87 n/a 0.031.00 2.00 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_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 Liver Lung 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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