rs7548548

Homo sapiens
G>C
LOC105378771 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0205 (6141/29938,GnomAD)
C=0194 (5655/29118,TOPMED)
C=0197 (987/5008,1000G)
C=0230 (886/3854,ALSPAC)
C=0235 (870/3708,TWINSUK)
chr1:63685698 (GRCh38.p7) (1p31.3)
AD
GWASdb2
1   publication(s)
See rs on genome
36 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 1NC_000001.11:g.63685698G>C
GRCh37.p13 chr 1NC_000001.10:g.64151369G>C

Gene: LOC105378771, uncharacterized LOC105378771(plus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC105378771 transcript variant X1XR_947457.2:n.N/AIntron Variant
LOC105378771 transcript variant X2XR_947456.2:n.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.905C=0.095
1000GenomesAmericanSub694G=0.640C=0.360
1000GenomesEast AsianSub1008G=0.791C=0.209
1000GenomesEuropeSub1006G=0.738C=0.262
1000GenomesGlobalStudy-wide5008G=0.803C=0.197
1000GenomesSouth AsianSub978G=0.860C=0.140
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.770C=0.230
The Genome Aggregation DatabaseAfricanSub8714G=0.889C=0.111
The Genome Aggregation DatabaseAmericanSub838G=0.670C=0.330
The Genome Aggregation DatabaseEast AsianSub1616G=0.793C=0.207
The Genome Aggregation DatabaseEuropeSub18468G=0.756C=0.243
The Genome Aggregation DatabaseGlobalStudy-wide29938G=0.794C=0.205
The Genome Aggregation DatabaseOtherSub302G=0.780C=0.220
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.805C=0.194
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.765C=0.235
PMID Title Author Journal
21665994Genome-wide association study identifies two loci strongly affecting transferrin glycosylation.Kutalik ZHum Mol Genet

P-Value

SNP ID p-value Traits Study
rs75485481.04E-07alcohol consumption21665994

eQTL of rs7548548 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 rs7548548 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 )
chr16413998664141001E068-10368
chr16415682364156888E0695454
chr16415713764157261E0695768
chr16416340364163697E06912034
chr16416388464164427E06912515
chr16416515264165382E06913783
chr16410872364108792E070-42577
chr16410890164108951E070-42418
chr16410898364109138E070-42231
chr16411154664111722E070-39647
chr16416887864169157E07017509
chr16416925864169308E07017889
chr16416940064169582E07018031
chr16413998664141001E071-10368
chr16416320364163347E07111834
chr16416340364163697E07112034
chr16416515264165382E07113783
chr16410142864101659E072-49710
chr16410205364102103E072-49266
chr16416061164160818E0729242
chr16416091864161040E0729549
chr16416107764161221E0729708
chr16416320364163347E07211834
chr16416340364163697E07212034
chr16416388464164427E07212515
chr16413998664141001E074-10368
chr16410934364110000E081-41369
chr16413998664141001E081-10368
chr16414102364142025E081-9344
chr16410890164108951E082-42418
chr16410898364109138E082-42231
chr16410934364110000E082-41369
chr16411154664111722E082-39647
chr16414102364142025E082-9344
chr16416887864169157E08217509
chr16416925864169308E08217889