rs7041558

Homo sapiens
A>G
EGFL7 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A==0384 (11470/29872,GnomAD)
A==0367 (1840/5008,1000G)
A==0369 (1423/3854,ALSPAC)
A==0370 (1373/3708,TWINSUK)
chr9:136664675 (GRCh38.p7) (9q34.3)
AD
GWASdb2
1   publication(s)
See rs on genome
77 Enhancers around
98 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 9NC_000009.12:g.136664675A>G
GRCh37.p13 chr 9NC_000009.11:g.139559127A>G

Gene: EGFL7, EGF like domain multiple 7(plus strand)

Molecule type Change Amino acid[Codon] SO Term
EGFL7 transcript variant 1NM_016215.4:c.N/AIntron Variant
EGFL7 transcript variant 2NM_201446.2:c.N/AGenic Upstream Transcript Variant
EGFL7 transcript variant 3NR_045110.1:n.N/AIntron Variant
EGFL7 transcript variant 4NR_045111.1:n.N/AIntron Variant
EGFL7 transcript variant 5NR_046367.1:n.N/AIntron Variant
EGFL7 transcript variant X6XM_011518764.1:c.N/AIntron Variant
EGFL7 transcript variant X7XM_011518765.1:c.N/AIntron Variant
EGFL7 transcript variant X8XM_011518766.1:c.N/AIntron Variant
EGFL7 transcript variant X15XM_011518767.1:c.N/AIntron Variant
EGFL7 transcript variant X16XM_011518768.1:c.N/AIntron Variant
EGFL7 transcript variant X9XM_017014795.1:c.N/AIntron Variant
EGFL7 transcript variant X10XM_017014796.1:c.N/AIntron Variant
EGFL7 transcript variant X11XM_017014797.1:c.N/AIntron Variant
EGFL7 transcript variant X13XM_017014798.1:c.N/AIntron Variant
EGFL7 transcript variant X14XM_017014799.1:c.N/AIntron Variant
EGFL7 transcript variant X12XM_006717141.3:c.N/AGenic Upstream Transcript Variant
EGFL7 transcript variant X3XR_001746317.1:n.N/AIntron Variant
EGFL7 transcript variant X2XR_001746318.1:n.N/AIntron Variant
EGFL7 transcript variant X4XR_001746319.1:n.N/AIntron Variant
EGFL7 transcript variant X5XR_001746320.1:n.N/AGenic Downstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.471G=0.529
1000GenomesAmericanSub694A=0.340G=0.660
1000GenomesEast AsianSub1008A=0.266G=0.734
1000GenomesEuropeSub1006A=0.402G=0.598
1000GenomesGlobalStudy-wide5008A=0.367G=0.633
1000GenomesSouth AsianSub978A=0.320G=0.680
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.369G=0.631
The Genome Aggregation DatabaseAfricanSub8690A=0.465G=0.535
The Genome Aggregation DatabaseAmericanSub838A=0.380G=0.620
The Genome Aggregation DatabaseEast AsianSub1616A=0.215G=0.785
The Genome Aggregation DatabaseEuropeSub18426A=0.359G=0.640
The Genome Aggregation DatabaseGlobalStudy-wide29872A=0.384G=0.616
The Genome Aggregation DatabaseOtherSub302A=0.450G=0.550
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.370G=0.630
PMID Title Author Journal
24277619ALDH2 is associated to alcohol dependence and is the major genetic determinant of "daily maximum drinks" in a GWAS study of an isolated rural Chinese sample.Quillen EEAm J Med Genet B Neuropsychiatr Genet

P-Value

SNP ID p-value Traits Study
rs70415580.000981alcohol dependence24277619

eQTL of rs7041558 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 rs7041558 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 )
chr9139519186139519357E067-39770
chr9139519360139520228E067-38899
chr9139520260139520937E067-38190
chr9139524575139526361E067-32766
chr9139579775139579825E06720648
chr9139579860139579963E06720733
chr9139579998139580120E06720871
chr9139608487139608604E06749360
chr9139608605139608724E06749478
chr9139513742139514921E068-44206
chr9139514962139515046E068-44081
chr9139515170139515359E068-43768
chr9139515383139515475E068-43652
chr9139519186139519357E068-39770
chr9139519360139520228E068-38899
chr9139520260139520937E068-38190
chr9139608487139608604E06849360
chr9139608605139608724E06849478
chr9139513742139514921E069-44206
chr9139519186139519357E069-39770
chr9139519360139520228E069-38899
chr9139520260139520937E069-38190
chr9139608487139608604E06949360
chr9139608605139608724E06949478
chr9139519186139519357E070-39770
chr9139519360139520228E070-38899
chr9139524575139526361E070-32766
chr9139512794139513686E071-45441
chr9139513742139514921E071-44206
chr9139514962139515046E071-44081
chr9139519186139519357E071-39770
chr9139519360139520228E071-38899
chr9139520260139520937E071-38190
chr9139520970139521057E071-38070
chr9139524575139526361E071-32766
chr9139532061139532486E071-26641
chr9139513742139514921E072-44206
chr9139517966139519181E072-39946
chr9139519186139519357E072-39770
chr9139519360139520228E072-38899
chr9139520260139520937E072-38190
chr9139524575139526361E072-32766
chr9139532061139532486E072-26641
chr9139587657139587872E07228530
chr9139513742139514921E073-44206
chr9139517966139519181E073-39946
chr9139519186139519357E073-39770
chr9139519360139520228E073-38899
chr9139520260139520937E073-38190
chr9139524575139526361E073-32766
chr9139548770139548902E073-10225
chr9139549216139549286E073-9841
chr9139573031139573081E07313904
chr9139573114139573631E07313987
chr9139573641139573743E07314514
chr9139579527139579681E07320400
chr9139579775139579825E07320648
chr9139579860139579963E07320733
chr9139579998139580120E07320871
chr9139608605139608724E07349478
chr9139513742139514921E074-44206
chr9139519360139520228E074-38899
chr9139520260139520937E074-38190
chr9139524575139526361E074-32766
chr9139608487139608604E07449360
chr9139519360139520228E081-38899
chr9139524575139526361E081-32766
chr9139573641139573743E08114514
chr9139573768139574271E08114641
chr9139574289139574639E08115162
chr9139589885139591236E08130758
chr9139591564139592358E08132437
chr9139608487139608604E08149360
chr9139608605139608724E08149478
chr9139524575139526361E082-32766
chr9139573641139573743E08214514
chr9139573768139574271E08214641










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr9139558396139558678E067-449
chr9139559282139560873E067155
chr9139560878139561139E0671751
chr9139606141139607053E06747014
chr9139607079139608460E06747952
chr9139557516139558371E068-756
chr9139558396139558678E068-449
chr9139558785139558843E068-284
chr9139558863139559023E068-104
chr9139559049139559099E068-28
chr9139559137139559191E06810
chr9139559282139560873E068155
chr9139560878139561139E0681751
chr9139561148139561982E0682021
chr9139561983139562258E0682856
chr9139562277139562403E0683150
chr9139562438139562488E0683311
chr9139562508139562997E0683381
chr9139563032139563169E0683905
chr9139563188139563251E0684061
chr9139563262139564172E0684135
chr9139606141139607053E06847014
chr9139607079139608460E06847952
chr9139557516139558371E069-756
chr9139558396139558678E069-449
chr9139558785139558843E069-284
chr9139558863139559023E069-104
chr9139559049139559099E069-28
chr9139559137139559191E06910
chr9139559282139560873E069155
chr9139560878139561139E0691751
chr9139561148139561982E0692021
chr9139561983139562258E0692856
chr9139562277139562403E0693150
chr9139606141139607053E06947014
chr9139607079139608460E06947952
chr9139559282139560873E070155
chr9139560878139561139E0701751
chr9139606141139607053E07047014
chr9139607079139608460E07047952
chr9139557516139558371E071-756
chr9139558396139558678E071-449
chr9139558785139558843E071-284
chr9139558863139559023E071-104
chr9139559049139559099E071-28
chr9139559137139559191E07110
chr9139560878139561139E0711751
chr9139561148139561982E0712021
chr9139561983139562258E0712856
chr9139562277139562403E0713150
chr9139562438139562488E0713311
chr9139562508139562997E0713381
chr9139563032139563169E0713905
chr9139563188139563251E0714061
chr9139563262139564172E0714135
chr9139557516139558371E072-756
chr9139558785139558843E072-284
chr9139558863139559023E072-104
chr9139559049139559099E072-28
chr9139559137139559191E07210
chr9139559282139560873E072155
chr9139560878139561139E0721751
chr9139561148139561982E0722021
chr9139564247139564890E0725120
chr9139606141139607053E07247014
chr9139607079139608460E07247952
chr9139557516139558371E073-756
chr9139558396139558678E073-449
chr9139558785139558843E073-284
chr9139558863139559023E073-104
chr9139559049139559099E073-28
chr9139559137139559191E07310
chr9139559282139560873E073155
chr9139560878139561139E0731751
chr9139561148139561982E0732021
chr9139561983139562258E0732856
chr9139562277139562403E0733150
chr9139562438139562488E0733311
chr9139562508139562997E0733381
chr9139563032139563169E0733905
chr9139563188139563251E0734061
chr9139563262139564172E0734135
chr9139564247139564890E0735120
chr9139580128139583466E07321001
chr9139606141139607053E07347014
chr9139607079139608460E07347952
chr9139558396139558678E074-449
chr9139558785139558843E074-284
chr9139558863139559023E074-104
chr9139559049139559099E074-28
chr9139559137139559191E07410
chr9139580128139583466E07421001
chr9139607079139608460E07447952
chr9139607079139608460E08147952
chr9139559282139560873E082155
chr9139560878139561139E0821751
chr9139606141139607053E08247014
chr9139607079139608460E08247952