rs260501 chr19:58279441 T>G

Sequence
cgagcaggcccatctcctgcgttc[T/G]gctccgccccgccgacacccttgc
ASB in cell types
K562 (myelogenous leukemia) HEK293 (embryonic kidney)
ASB for transcription factors
NRF1_HUMAN ENL_HUMAN REST_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
NRF1_HUMAN 1.10 -0.20 2.2·10-41.00 2.19 -1.00 Weak Concordant
ENL_HUMAN 2.17 -0.03 0.030.80 2.00 n/a n/a
REST_HUMAN 2.07 -0.53 0.051.00 1.50 -2.44 Concordant
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Motif analysis

REST_HUMAN Concordant
REST_HUMAN pic

Genetic associations

GRASP birth weight hdl cholesterol
GTEx eQTL Adipose_Subcutaneous Adipose_Visceral_Omentum Adrenal_Gland Artery_Aorta Artery_Coronary Artery_Tibial Brain_Caudate_basal_ganglia Brain_Cerebellar_Hemisphere Brain_Cerebellum Brain_Cortex Brain_Hypothalamus Brain_Nucleus_accumbens_basal_ganglia Brain_Putamen_basal_ganglia 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 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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