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rs1048245 chr1:16014859 T>G

Sequence
gaccagccccacccccaaccccac[T/G]tggccttgcctggaggccccagca
ASB in cell types
GM12878 (female B-cells lymphoblastoid cell line)
ASB for transcription factors
ZN687_HUMAN IKZF2_HUMAN

Color scale

color scale ref
-log10 FDR of Ref (T) ASB
color scale alt
-log10 FDR of Alt (G) ASB

Details

Uniprot ID
Effect size Ref
Effect size Alt
FDR Ref
FDR Alt
Mean BAD
Motif fold change
Motif concordance
ZN687_HUMAN n/a 4.36 1.002.3·10-9 1.00 n/a n/a
IKZF2_HUMAN -1.19 1.87 1.000.01 1.00 n/a n/a
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Motif analysis

No data available

Genetic associations

GRASP advanced age-related macular degeneration (choroidal neovascularization) vs. no amd hdl cholesterol
GTEx eQTL Adipose_Subcutaneous Adrenal_Gland Artery_Aorta Artery_Coronary Artery_Tibial Brain_Anterior_cingulate_cortex_BA24 Brain_Caudate_basal_ganglia 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 Cells_Cultured_fibroblasts Colon_Transverse Esophagus_Gastroesophageal_Junction Esophagus_Mucosa Esophagus_Muscularis Heart_Atrial_Appendage Heart_Left_Ventricle Muscle_Skeletal Nerve_Tibial Ovary Pancreas Pituitary Prostate Skin_Not_Sun_Exposed_Suprapubic Skin_Sun_Exposed_Lower_leg Spleen Stomach Testis Thyroid

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