rs3748522 chr12:949522 A>C

Sequence
gtccaccgcagccccaggttctcg[A/C]cccggaagctgagccttcccacgc
ASB in cell types
HEK293 (embryonic kidney) GM12878 (female B-cells lymphoblastoid cell line)
ASB for transcription factors
ELF1_HUMAN COT1_HUMAN SP7_HUMAN CTCF_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
ELF1_HUMAN 1.97 0.23 9.4·10-61.00 1.50 -2.71 Concordant
COT1_HUMAN 2.06 -1.86 4.8·10-41.00 1.00 n/a No Hit
SP7_HUMAN n/a 2.16 1.003.6·10-3 2.00 n/a No Hit
CTCF_HUMAN 0.28 0.96 0.870.02 1.15 n/a No Hit
NR2C1_HUMAN 2.12 -1.81 0.021.00 1.00 -4.03 Concordant
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Motif analysis

NR2C1_HUMAN Concordant
NR2C1_HUMAN pic

Genetic associations

GRASP barnes akathisia rating scale,  birth weight,  rheumatoid arthritis
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_Frontal_Cortex_BA9,  Brain_Putamen_basal_ganglia,  Breast_Mammary_Tissue,  Cells_Cultured_fibroblasts,  Colon_Sigmoid,  Colon_Transverse,  Esophagus_Gastroesophageal_Junction,  Esophagus_Mucosa,  Esophagus_Muscularis,  Heart_Atrial_Appendage,  Heart_Left_Ventricle,  Lung,  Muscle_Skeletal,  Nerve_Tibial,  Pituitary,  Skin_Not_Sun_Exposed_Suprapubic,  Skin_Sun_Exposed_Lower_leg,  Spleen,  Stomach,  Thyroid,  Whole_Blood

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