rs1735457

Homo sapiens
G>A
FHIT : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G==0072 (2177/29980,GnomAD)
G==0065 (1902/29118,TOPMED)
G==0100 (500/5008,1000G)
G==0061 (234/3854,ALSPAC)
G==0047 (173/3708,TWINSUK)
chr3:60698004 (GRCh38.p7) (3p14.2)
AD
GWASdb2
2   publication(s)
See rs on genome
110 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 3NC_000003.12:g.60698004G>A
GRCh37.p13 chr 3 fix patch HG1091_PATCHNW_003871058.1:g.125406G>A
FHIT RefSeqGeneNG_007551.2:g.558456C>T
GRCh37.p13 chr 3NC_000003.11:g.60683737G>A

Gene: FHIT, fragile histidine triad(minus strand)

Molecule type Change Amino acid[Codon] SO Term
FHIT transcript variant 2NM_001166243.2:c.N/AIntron Variant
FHIT transcript variant 3NM_001320899.1:c.N/AIntron Variant
FHIT transcript variant 4NM_001320900.1:c.N/AIntron Variant
FHIT transcript variant 1NM_002012.3:c.N/AIntron Variant
FHIT transcript variant 5NM_001320901.1:c.N/AGenic Upstream Transcript Variant
FHIT transcript variant 6NR_135491.1:n.N/AGenic Upstream Transcript Variant
FHIT transcript variant X1XM_017005880.1:c.N/AIntron Variant
FHIT transcript variant X2XM_017005881.1:c.N/AIntron Variant
FHIT transcript variant X3XM_017005882.1:c.N/AIntron Variant
FHIT transcript variant X4XM_017005883.1:c.N/AIntron Variant
FHIT transcript variant X5XM_017005884.1:c.N/AIntron Variant
FHIT transcript variant X6XM_017005885.1:c.N/AGenic Upstream Transcript Variant
FHIT transcript variant X7XM_017005886.1:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.079A=0.921
1000GenomesAmericanSub694G=0.150A=0.850
1000GenomesEast AsianSub1008G=0.135A=0.865
1000GenomesEuropeSub1006G=0.063A=0.937
1000GenomesGlobalStudy-wide5008G=0.100A=0.900
1000GenomesSouth AsianSub978G=0.090A=0.910
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.061A=0.939
The Genome Aggregation DatabaseAfricanSub8736G=0.069A=0.931
The Genome Aggregation DatabaseAmericanSub836G=0.200A=0.800
The Genome Aggregation DatabaseEast AsianSub1618G=0.117A=0.883
The Genome Aggregation DatabaseEuropeSub18488G=0.064A=0.935
The Genome Aggregation DatabaseGlobalStudy-wide29980G=0.072A=0.927
The Genome Aggregation DatabaseOtherSub302G=0.100A=0.900
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.065A=0.934
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.047A=0.953
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res
21654844Genome-wide association study of severity in multiple sclerosis.-Genes Immun

P-Value

SNP ID p-value Traits Study
rs17354570.00065alcohol dependence(early age of onset)20201924
rs17354570.00099alcohol dependence20201924

eQTL of rs1735457 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 rs1735457 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 )
chr3104810105451E067-19955
chr3114174114280E067-11126
chr3114437114799E067-10607
chr3141018141128E06715612
chr3114174114280E068-11126
chr3114437114799E068-10607
chr3114802115003E068-10403
chr3115137115254E068-10152
chr3115361115440E068-9966
chr3139390139586E06813984
chr3139704139834E06814298
chr3141018141128E06815612
chr3141277141526E06815871
chr3104810105451E069-19955
chr3105525105633E069-19773
chr3114174114280E069-11126
chr3114437114799E069-10607
chr3114802115003E069-10403
chr3115137115254E069-10152
chr3115361115440E069-9966
chr3141018141128E06915612
chr3114174114280E070-11126
chr3114437114799E070-10607
chr3114802115003E070-10403
chr3115137115254E070-10152
chr3115361115440E070-9966
chr3116283116363E070-9043
chr3116414116901E070-8505
chr3117032117204E070-8202
chr3117319117416E070-7990
chr3117466117544E070-7862
chr3123630123786E070-1620
chr3123847123912E070-1494
chr3124839125153E070-253
chr3139183139333E07013777
chr3139390139586E07013984
chr3139704139834E07014298
chr3142138142206E07016732
chr3144310144411E07018904
chr3145812145986E07020406
chr3152159152209E07026753
chr3152592152664E07027186
chr3152974153132E07027568
chr3153343153416E07027937
chr3173051173150E07047645
chr3173301173444E07047895
chr3104810105451E071-19955
chr3105525105633E071-19773
chr3114174114280E071-11126
chr3114437114799E071-10607
chr3114802115003E071-10403
chr3115137115254E071-10152
chr3141018141128E07115612
chr3141277141526E07115871
chr3105525105633E072-19773
chr3114174114280E072-11126
chr3114437114799E072-10607
chr3114802115003E072-10403
chr3115137115254E072-10152
chr3115361115440E072-9966
chr3141018141128E07215612
chr3141018141128E07315612
chr3141277141526E07315871
chr3142138142206E07316732
chr3111467111643E074-13763
chr3114437114799E074-10607
chr3114802115003E074-10403
chr3115137115254E074-10152
chr3115361115440E074-9966
chr3141018141128E07415612
chr3141277141526E07415871
chr38431584369E081-41037
chr38610586168E081-39238
chr3104810105451E081-19955
chr3105525105633E081-19773
chr3114437114799E081-10607
chr3114802115003E081-10403
chr3115137115254E081-10152
chr3115361115440E081-9966
chr3123630123786E081-1620
chr3139183139333E08113777
chr3139390139586E08113984
chr3139704139834E08114298
chr3141018141128E08115612
chr3141277141526E08115871
chr3164584164709E08139178
chr3173051173150E08147645
chr3173301173444E08147895
chr38431584369E082-41037
chr3104810105451E082-19955
chr3105525105633E082-19773
chr3114437114799E082-10607
chr3114802115003E082-10403
chr3115137115254E082-10152
chr3115361115440E082-9966
chr3117032117204E082-8202
chr3117319117416E082-7990
chr3117466117544E082-7862
chr3139183139333E08213777
chr3139390139586E08213984
chr3139704139834E08214298
chr3141018141128E08215612
chr3141277141526E08215871
chr3142138142206E08216732
chr3152974153132E08227568
chr3153343153416E08227937
chr3164433164483E08239027
chr3164584164709E08239178
chr3173051173150E08247645
chr3173301173444E08247895