rs13174549

Homo sapiens
C>T
EBF1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0078 (2334/29930,GnomAD)
T=0087 (2553/29118,TOPMED)
T=0082 (413/5008,1000G)
T=0064 (248/3854,ALSPAC)
T=0067 (247/3708,TWINSUK)
chr5:159035468 (GRCh38.p7) (5q33.3)
AD
GWASdb2
1   publication(s)
See rs on genome
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 5NC_000005.10:g.159035468C>T
GRCh37.p13 chr 5NC_000005.9:g.158462476C>T

Gene: EBF1, early B-cell factor 1(minus strand)

Molecule type Change Amino acid[Codon] SO Term
EBF1 transcript variant 1NM_001290360.2:c.N/AIntron Variant
EBF1 transcript variant 4NM_001324101.1:c.N/AIntron Variant
EBF1 transcript variant 5NM_001324103.1:c.N/AIntron Variant
EBF1 transcript variant 6NM_001324106.1:c.N/AIntron Variant
EBF1 transcript variant 7NM_001324107.1:c.N/AIntron Variant
EBF1 transcript variant 8NM_001324108.1:c.N/AIntron Variant
EBF1 transcript variant 9NM_001324109.1:c.N/AIntron Variant
EBF1 transcript variant 10NM_001324111.1:c.N/AIntron Variant
EBF1 transcript variant 2NM_024007.4:c.N/AIntron Variant
EBF1 transcript variant 3NM_182708.2:c.N/AIntron Variant
EBF1 transcript variant X1XM_017009192.1:c.N/AIntron Variant
EBF1 transcript variant X2XM_017009193.1:c.N/AIntron Variant
EBF1 transcript variant X3XM_017009194.1:c.N/AIntron Variant
EBF1 transcript variant X4XM_017009195.1:c.N/AIntron Variant
EBF1 transcript variant X5XM_017009196.1:c.N/AIntron Variant
EBF1 transcript variant X6XM_017009197.1:c.N/AIntron Variant
EBF1 transcript variant X7XM_017009198.1:c.N/AIntron Variant
EBF1 transcript variant X9XM_017009200.1:c.N/AIntron Variant
EBF1 transcript variant X10XM_017009201.1:c.N/AIntron Variant
EBF1 transcript variant X17XM_017009202.1:c.N/AIntron Variant
EBF1 transcript variant X18XM_017009203.1:c.N/AIntron Variant
EBF1 transcript variant X14XM_017009199.1:c.N/AGenic Upstream Transcript Variant
EBF1 transcript variant X19XM_017009204.1:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.887T=0.113
1000GenomesAmericanSub694C=0.950T=0.050
1000GenomesEast AsianSub1008C=0.919T=0.081
1000GenomesEuropeSub1006C=0.935T=0.065
1000GenomesGlobalStudy-wide5008C=0.918T=0.082
1000GenomesSouth AsianSub978C=0.920T=0.080
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.936T=0.064
The Genome Aggregation DatabaseAfricanSub8702C=0.893T=0.107
The Genome Aggregation DatabaseAmericanSub836C=0.940T=0.060
The Genome Aggregation DatabaseEast AsianSub1616C=0.912T=0.088
The Genome Aggregation DatabaseEuropeSub18474C=0.935T=0.064
The Genome Aggregation DatabaseGlobalStudy-wide29930C=0.922T=0.078
The Genome Aggregation DatabaseOtherSub302C=0.920T=0.080
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.912T=0.087
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.933T=0.067
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs131745490.00063alcohol dependence20201924

eQTL of rs13174549 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
There is no eQTL annotation for this SNP

meQTL of rs13174549 in Fetal Brain

Probe ID Position Gene beta p-value
There is no meQTL annotation for this SNP

Genomic View

Chromatin Interaction

There is no significant Hi-C chromatin interaction data for this SNP.

Enhancer Annotation (GRCh37.p13)

Chromosome Start End Region Distance ( -/+ : Up/Downstream )
chr5158448249158448463E069-14013
chr5158448514158449775E069-12701
chr5158488922158489571E06926446
chr5158424597158424647E070-37829
chr5158448514158449775E070-12701
chr5158438661158438834E071-23642
chr5158448249158448463E071-14013
chr5158488922158489571E07126446
chr5158429036158429191E073-33285
chr5158429253158429475E073-33001
chr5158448514158449775E073-12701
chr5158488922158489571E07326446
chr5158427009158427147E081-35329
chr5158445959158446139E081-16337
chr5158446180158446278E081-16198
chr5158448249158448463E081-14013
chr5158448514158449775E081-12701
chr5158447447158447615E082-14861
chr5158448249158448463E082-14013
chr5158448514158449775E082-12701
chr5158509399158509566E08246923
chr5158509590158509706E08247114