rs4450596 chr2:86195908 A>C

Sequence
tttgacagccctccagggagtcat[A/C]gtgattgctggagacggtgaacta
ASB in cell types
HEK293 (embryonic kidney) HepG2 (hepatoblastoma) MDA-MB-231 (breast adenocarcinoma) A549 (lung carcinoma)
ASB for transcription factors
GABPA_HUMAN JUN_HUMAN BRD4_HUMAN BRD2_HUMAN
Search SNPs nearby
View in UCSC Genome Browser
View in PheLiGe

Color scale

color scale ref
-log10 FDR of Ref (A) 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
GABPA_HUMAN 2.44 -1.47 1.4·10-31.00 2.00 n/a No Hit
JUN_HUMAN 1.12 -0.10 7.1·10-31.00 1.31 2.40 Discordant
BRD4_HUMAN 2.17 -0.34 0.021.00 1.50 n/a n/a
BRD2_HUMAN 1.89 -0.17 0.021.00 1.90 n/a n/a
ZBT17_HUMAN 2.12 -1.81 0.021.00 1.00 n/a No Hit
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Motif analysis

JUN_HUMAN Discordant
JUN_HUMAN pic

Genetic associations

GRASP adiponectin levels,  advanced age-related macular degeneration,  advanced age-related macular degeneration (geographic atrophy),  fasting insulin,  hdl cholesterol,  homa-ir
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,  Brain_Substantia_nigra,  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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