rs2877260

Homo sapiens
A>G
EGFR : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0179 (5386/29968,GnomAD)
G=0169 (4924/29118,TOPMED)
G=0126 (632/5008,1000G)
G=0243 (937/3854,ALSPAC)
G=0240 (890/3708,TWINSUK)
chr7:55103936 (GRCh38.p7) (7p11.2)
AD
GWASdb2
1   publication(s)
See rs on genome
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 7NC_000007.14:g.55103936A>G
GRCh37.p13 chr 7NC_000007.13:g.55171629A>G
EGFR RefSeqGene LRG_304

Gene: EGFR, epidermal growth factor receptor(plus strand)

Molecule type Change Amino acid[Codon] SO Term
EGFR transcript variant 1NM_005228.3:c.N/AIntron Variant
EGFR transcript variant 2NM_201282.1:c.N/AIntron Variant
EGFR transcript variant 3NM_201283.1:c.N/AIntron Variant
EGFR transcript variant 4NM_201284.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.924G=0.076
1000GenomesAmericanSub694A=0.830G=0.170
1000GenomesEast AsianSub1008A=0.999G=0.001
1000GenomesEuropeSub1006A=0.722G=0.278
1000GenomesGlobalStudy-wide5008A=0.874G=0.126
1000GenomesSouth AsianSub978A=0.860G=0.140
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.757G=0.243
The Genome Aggregation DatabaseAfricanSub8730A=0.898G=0.102
The Genome Aggregation DatabaseAmericanSub836A=0.830G=0.170
The Genome Aggregation DatabaseEast AsianSub1622A=1.000G=0.000
The Genome Aggregation DatabaseEuropeSub18478A=0.770G=0.229
The Genome Aggregation DatabaseGlobalStudy-wide29968A=0.820G=0.179
The Genome Aggregation DatabaseOtherSub302A=0.630G=0.370
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.830G=0.169
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.760G=0.240
PMID Title Author Journal
21529783A quantitative-trait genome-wide association study of alcoholism risk in the community: findings and implications.Heath ACBiol Psychiatry

P-Value

SNP ID p-value Traits Study
rs28772604.7E-05alcoholism (heaviness of drinking)21529783

eQTL of rs2877260 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 rs2877260 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 )
chr75512720555127272E067-44357
chr75512731455127364E067-44265
chr75514292955143726E067-27903
chr75514384455143975E067-27654
chr75514399255144111E067-27518
chr75514417455144218E067-27411
chr75514868255149639E067-21990
chr75514964255149870E067-21759
chr75514987255149943E067-21686
chr75515332855153731E067-17898
chr75515374555155157E067-16472
chr75515523055155629E067-16000
chr75515645255156565E067-15064
chr75516662955169405E067-2224
chr75516974555169795E067-1834
chr75519717755199674E06725548
chr75512818655128236E068-43393
chr75512833555128560E068-43069
chr75512861855129834E068-41795
chr75512984155130013E068-41616
chr75513236855132420E068-39209
chr75513261055134639E068-36990
chr75513471755135080E068-36549
chr75513762155137734E068-33895
chr75513780555139027E068-32602
chr75513998255140272E068-31357
chr75514027855140583E068-31046
chr75514062655142325E068-29304
chr75514236555142847E068-28782
chr75514292955143726E068-27903
chr75514384455143975E068-27654
chr75514399255144111E068-27518
chr75514417455144218E068-27411
chr75514430155144367E068-27262
chr75514713455147279E068-24350
chr75514733555147434E068-24195
chr75514744555147564E068-24065
chr75514759755147674E068-23955
chr75514854755148605E068-23024
chr75514868255149639E068-21990
chr75514964255149870E068-21759
chr75514987255149943E068-21686
chr75515013355150231E068-21398
chr75515048255150554E068-21075
chr75515065555150816E068-20813
chr75515302155153155E068-18474
chr75515332855153731E068-17898
chr75515374555155157E068-16472
chr75515523055155629E068-16000
chr75515565355155720E068-15909
chr75515578055155907E068-15722
chr75515902155160239E068-11390
chr75516034255160517E068-11112
chr75516645155166556E068-5073
chr75516662955169405E068-2224
chr75516947555169723E068-1906
chr75516998055170150E068-1479
chr75517246555172724E068836
chr75517283355173030E0681204
chr75517323655173317E0681607
chr75517336855173421E0681739
chr75517375755173928E0682128
chr75517395555174065E0682326
chr75517697355177029E0685344
chr75517706755177792E0685438
chr75517794855179518E0686319
chr75517953455179694E0687905
chr75519419155194361E06822562
chr75519447055195919E06822841
chr75519601855196086E06824389
chr75519611355196189E06824484
chr75519621755197160E06824588
chr75519717755199674E06825548
chr75519985755199911E06828228
chr75520009755202007E06828468
chr75520209255202188E06830463
chr75513998255140272E069-31357
chr75514868255149639E069-21990
chr75514964255149870E069-21759
chr75514987255149943E069-21686
chr75515013355150231E069-21398
chr75515048255150554E069-21075
chr75515065555150816E069-20813
chr75515374555155157E069-16472
chr75515523055155629E069-16000
chr75515565355155720E069-15909
chr75515578055155907E069-15722
chr75515594755156045E069-15584
chr75516645155166556E069-5073
chr75516662955169405E069-2224
chr75517794855179518E0696319
chr75517953455179694E0697905
chr75512669655127080E070-44549
chr75512720555127272E070-44357
chr75512731455127364E070-44265
chr75512753255128176E070-43453
chr75512818655128236E070-43393
chr75512833555128560E070-43069
chr75512861855129834E070-41795
chr75513261055134639E070-36990
chr75513915055139838E070-31791
chr75513998255140272E070-31357
chr75514027855140583E070-31046
chr75514868255149639E070-21990
chr75515332855153731E070-17898
chr75515374555155157E070-16472
chr75515523055155629E070-16000
chr75515565355155720E070-15909
chr75515578055155907E070-15722
chr75515594755156045E070-15584
chr75515605355156262E070-15367
chr75515633755156398E070-15231
chr75515645255156565E070-15064
chr75515686655156938E070-14691
chr75515902155160239E070-11390
chr75516034255160517E070-11112
chr75516064355160769E070-10860
chr75516081155160916E070-10713
chr75516106555161280E070-10349
chr75516143555162420E070-9209
chr75516248255162575E070-9054
chr75516264455162740E070-8889
chr75516277855163030E070-8599
chr75516315455163285E070-8344
chr75516334555163497E070-8132
chr75516494355165058E070-6571
chr75516515855165271E070-6358
chr75516578955166100E070-5529
chr75516645155166556E070-5073
chr75516662955169405E070-2224
chr75517610855176824E0704479
chr75517690855176971E0705279
chr75517697355177029E0705344
chr75517706755177792E0705438
chr75517953455179694E0707905
chr75517974455179940E0708115
chr75519447055195919E07022841
chr75519621755197160E07024588
chr75519717755199674E07025548
chr75520745455207545E07035825
chr75520788555208979E07036256
chr75513261055134639E071-36990
chr75513471755135080E071-36549
chr75513998255140272E071-31357
chr75514027855140583E071-31046
chr75514292955143726E071-27903
chr75514384455143975E071-27654
chr75514399255144111E071-27518
chr75514854755148605E071-23024
chr75514868255149639E071-21990
chr75514964255149870E071-21759
chr75514987255149943E071-21686
chr75515013355150231E071-21398
chr75515332855153731E071-17898
chr75515374555155157E071-16472
chr75515523055155629E071-16000
chr75515565355155720E071-15909
chr75515578055155907E071-15722
chr75515594755156045E071-15584
chr75515902155160239E071-11390
chr75516034255160517E071-11112
chr75516064355160769E071-10860
chr75516081155160916E071-10713
chr75516106555161280E071-10349
chr75516143555162420E071-9209
chr75516662955169405E071-2224
chr75517697355177029E0715344
chr75517706755177792E0715438
chr75517794855179518E0716319
chr75519717755199674E07125548
chr75520009755202007E07128468
chr75513998255140272E072-31357
chr75519717755199674E07225548
chr75520009755202007E07228468
chr75512833555128560E073-43069
chr75512861855129834E073-41795
chr75513471755135080E073-36549
chr75513508855135191E073-36438
chr75513915055139838E073-31791
chr75513998255140272E073-31357
chr75514027855140583E073-31046
chr75514062655142325E073-29304
chr75514236555142847E073-28782
chr75514292955143726E073-27903
chr75514868255149639E073-21990
chr75514964255149870E073-21759
chr75514987255149943E073-21686
chr75515374555155157E073-16472
chr75515523055155629E073-16000
chr75515565355155720E073-15909
chr75515578055155907E073-15722
chr75516106555161280E073-10349
chr75516143555162420E073-9209
chr75516248255162575E073-9054
chr75516662955169405E073-2224
chr75517222055172391E073591
chr75517246555172724E073836
chr75517283355173030E0731204
chr75519601855196086E07324389
chr75519611355196189E07324484
chr75519621755197160E07324588
chr75519717755199674E07325548
chr75512249055122787E074-48842
chr75512818655128236E074-43393
chr75512833555128560E074-43069
chr75514062655142325E074-29304
chr75514236555142847E074-28782
chr75514292955143726E074-27903
chr75514384455143975E074-27654
chr75514399255144111E074-27518
chr75514417455144218E074-27411
chr75514430155144367E074-27262
chr75514437655144426E074-27203
chr75514868255149639E074-21990
chr75514964255149870E074-21759
chr75514987255149943E074-21686
chr75516662955169405E074-2224
chr75517794855179518E0746319
chr75517953455179694E0747905
chr75517974455179940E0748115
chr75517998355180138E0748354
chr75518781355189296E07416184
chr75519447055195919E07422841
chr75519601855196086E07424389
chr75519611355196189E07424484
chr75519621755197160E07424588
chr75519717755199674E07425548
chr75520209255202188E07430463
chr75512861855129834E081-41795
chr75513547755135538E081-36091
chr75513560755135713E081-35916
chr75513594955135993E081-35636
chr75513780555139027E081-32602
chr75513915055139838E081-31791
chr75513998255140272E081-31357
chr75514027855140583E081-31046
chr75514062655142325E081-29304
chr75514597255146060E081-25569
chr75514868255149639E081-21990
chr75515302155153155E081-18474
chr75515332855153731E081-17898
chr75515374555155157E081-16472
chr75515799955158152E081-13477
chr75515834055158405E081-13224
chr75515845455158501E081-13128
chr75515902155160239E081-11390
chr75516034255160517E081-11112
chr75516064355160769E081-10860
chr75516081155160916E081-10713
chr75516106555161280E081-10349
chr75516143555162420E081-9209
chr75516662955169405E081-2224
chr75517210555172155E081476
chr75517222055172391E081591
chr75517706755177792E0815438
chr75517794855179518E0816319
chr75517953455179694E0817905
chr75519717755199674E08125548
chr75512861855129834E082-41795
chr75513780555139027E082-32602
chr75513915055139838E082-31791
chr75515302155153155E082-18474
chr75515332855153731E082-17898
chr75515374555155157E082-16472
chr75516081155160916E082-10713
chr75516106555161280E082-10349
chr75516143555162420E082-9209
chr75516515855165271E082-6358
chr75516662955169405E082-2224
chr75517706755177792E0825438
chr75517953455179694E0827905
chr75519311955193280E08221490
chr75519331655193512E08221687
chr75519717755199674E08225548