rs3748643 chr1:45500031 G>T

Sequence
cgcagcgccacctgggaaactgag[G/T]tcgcctcttgcgaacacaaccggc
ASB in cell types
HEK293 (embryonic kidney) HepG2 (hepatoblastoma) K562 (myelogenous leukemia) HEK293T (embryonic kidney)
ASB for transcription factors
ELF4_HUMAN ETS1_HUMAN ATF1_HUMAN ILF3_HUMAN

Color scale

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

Details

Uniprot ID
Effect size Ref
Effect size Alt
FDR Ref
FDR Alt
Mean BAD
Motif fold change
Motif concordance
ELF4_HUMAN -1.14 1.81 1.007.0·10-6 1.50 n/a n/a
ETS1_HUMAN -0.43 1.85 1.008.6·10-5 1.33 n/a No Hit
ATF1_HUMAN -1.16 1.38 1.004.5·10-4 1.00 n/a No Hit
ILF3_HUMAN 2.30 -1.93 6.3·10-41.00 1.00 n/a n/a
RFOX2_HUMAN 2.36 -2.49 7.0·10-41.00 1.17 n/a n/a
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Motif analysis

THA11_HUMAN Concordant
THA11_HUMAN pic

Genetic associations

GRASP diabetic retinopathy in type 2 diabetes mellitus hdl cholesterol height rheumatoid arthritis
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 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 Vagina Whole_Blood

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