rs1735460

Homo sapiens
T>C
FHIT : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T==0039 (1170/29998,GnomAD)
T==0046 (1365/29118,TOPMED)
T==0050 (250/5008,1000G)
T==0017 (66/3854,ALSPAC)
T==0011 (42/3708,TWINSUK)
chr3:60705872 (GRCh38.p7) (3p14.2)
AD
GWASdb2
1   publication(s)
See rs on genome
111 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 3NC_000003.12:g.60705872T>C
GRCh37.p13 chr 3 fix patch HG1091_PATCHNW_003871058.1:g.133274T>C
FHIT RefSeqGeneNG_007551.2:g.550588A>G
GRCh37.p13 chr 3NC_000003.11:g.60691605T>C

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
1000GenomesAfricanSub1322T=0.097C=0.903
1000GenomesAmericanSub694T=0.100C=0.900
1000GenomesEast AsianSub1008T=0.000C=1.000
1000GenomesEuropeSub1006T=0.023C=0.977
1000GenomesGlobalStudy-wide5008T=0.050C=0.950
1000GenomesSouth AsianSub978T=0.030C=0.970
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.017C=0.983
The Genome Aggregation DatabaseAfricanSub8734T=0.080C=0.920
The Genome Aggregation DatabaseAmericanSub836T=0.140C=0.860
The Genome Aggregation DatabaseEast AsianSub1622T=0.000C=1.000
The Genome Aggregation DatabaseEuropeSub18504T=0.018C=0.981
The Genome Aggregation DatabaseGlobalStudy-wide29998T=0.039C=0.961
The Genome Aggregation DatabaseOtherSub302T=0.020C=0.980
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.046C=0.953
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.011C=0.989
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
rs17354600.000034alcoholismpha002893
rs17354600.000034alcohol dependence20201924
rs17354600.0000367alcoholismpha002892
rs17354600.000037Alcohol dependence (early age of onset)20201924

eQTL of rs1735460 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 rs1735460 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 )
chr3104810105451E067-27823
chr3114174114280E067-18994
chr3114437114799E067-18475
chr3141018141128E0677744
chr3114174114280E068-18994
chr3114437114799E068-18475
chr3114802115003E068-18271
chr3115137115254E068-18020
chr3115361115440E068-17834
chr3139390139586E0686116
chr3139704139834E0686430
chr3141018141128E0687744
chr3141277141526E0688003
chr3104810105451E069-27823
chr3105525105633E069-27641
chr3114174114280E069-18994
chr3114437114799E069-18475
chr3114802115003E069-18271
chr3115137115254E069-18020
chr3115361115440E069-17834
chr3141018141128E0697744
chr3114174114280E070-18994
chr3114437114799E070-18475
chr3114802115003E070-18271
chr3115137115254E070-18020
chr3115361115440E070-17834
chr3116283116363E070-16911
chr3116414116901E070-16373
chr3117032117204E070-16070
chr3117319117416E070-15858
chr3117466117544E070-15730
chr3123630123786E070-9488
chr3123847123912E070-9362
chr3124839125153E070-8121
chr3139183139333E0705909
chr3139390139586E0706116
chr3139704139834E0706430
chr3142138142206E0708864
chr3144310144411E07011036
chr3145812145986E07012538
chr3152159152209E07018885
chr3152592152664E07019318
chr3152974153132E07019700
chr3153343153416E07020069
chr3173051173150E07039777
chr3173301173444E07040027
chr3104810105451E071-27823
chr3105525105633E071-27641
chr3114174114280E071-18994
chr3114437114799E071-18475
chr3114802115003E071-18271
chr3115137115254E071-18020
chr3141018141128E0717744
chr3141277141526E0718003
chr3105525105633E072-27641
chr3114174114280E072-18994
chr3114437114799E072-18475
chr3114802115003E072-18271
chr3115137115254E072-18020
chr3115361115440E072-17834
chr3141018141128E0727744
chr3141018141128E0737744
chr3141277141526E0738003
chr3142138142206E0738864
chr3111467111643E074-21631
chr3114437114799E074-18475
chr3114802115003E074-18271
chr3115137115254E074-18020
chr3115361115440E074-17834
chr3141018141128E0747744
chr3141277141526E0748003
chr38431584369E081-48905
chr38610586168E081-47106
chr3104810105451E081-27823
chr3105525105633E081-27641
chr3114437114799E081-18475
chr3114802115003E081-18271
chr3115137115254E081-18020
chr3115361115440E081-17834
chr3123630123786E081-9488
chr3139183139333E0815909
chr3139390139586E0816116
chr3139704139834E0816430
chr3141018141128E0817744
chr3141277141526E0818003
chr3164584164709E08131310
chr3173051173150E08139777
chr3173301173444E08140027
chr38431584369E082-48905
chr3104810105451E082-27823
chr3105525105633E082-27641
chr3114437114799E082-18475
chr3114802115003E082-18271
chr3115137115254E082-18020
chr3115361115440E082-17834
chr3117032117204E082-16070
chr3117319117416E082-15858
chr3117466117544E082-15730
chr3139183139333E0825909
chr3139390139586E0826116
chr3139704139834E0826430
chr3141018141128E0827744
chr3141277141526E0828003
chr3142138142206E0828864
chr3152974153132E08219700
chr3153343153416E08220069
chr3164433164483E08231159
chr3164584164709E08231310
chr3173051173150E08239777
chr3173301173444E08240027
chr3182518182753E08249244