rs2799686

Homo sapiens
A>G
TNNT2 : 2KB Upstream Variant
Check p-value
SNV (Single Nucleotide Variation)
A==0106 (3180/29926,GnomAD)
A==0123 (3601/29118,TOPMED)
A==0082 (411/5008,1000G)
A==0086 (332/3854,ALSPAC)
A==0093 (344/3708,TWINSUK)
chr1:201378187 (GRCh38.p7) (1q32.1)
AD
GWASdb2
1   publication(s)
See rs on genome
10 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 1NC_000001.11:g.201378187A>G
GRCh37.p13 chr 1NC_000001.10:g.201347315A>G
TNNT2 RefSeqGeneNG_007556.1:g.4491T>C

Gene: TNNT2, troponin T2, cardiac type(minus strand): 2KB Upstream Variant

Molecule type Change Amino acid[Codon] SO Term
TNNT2 transcript variant 1NM_000364.3:c.N/AUpstream Transcript Variant
TNNT2 transcript variant 2NM_001001430.2:c.N/AUpstream Transcript Variant
TNNT2 transcript variant 3NM_001001431.2:c.N/AUpstream Transcript Variant
TNNT2 transcript variant 4NM_001001432.2:c.N/AUpstream Transcript Variant
TNNT2 transcript variant 5NM_001276345.1:c.N/AUpstream Transcript Variant
TNNT2 transcript variant 6NM_001276346.1:c.N/AUpstream Transcript Variant
TNNT2 transcript variant 7NM_001276347.1:c.N/AUpstream Transcript Variant
TNNT2 transcript variant X6XM_006711508.3:c.N/AUpstream Transcript Variant
TNNT2 transcript variant X7XM_006711509.3:c.N/AUpstream Transcript Variant
TNNT2 transcript variant X2XM_011509938.2:c.N/AUpstream Transcript Variant
TNNT2 transcript variant X3XM_011509939.1:c.N/AUpstream Transcript Variant
TNNT2 transcript variant X4XM_011509940.2:c.N/AUpstream Transcript Variant
TNNT2 transcript variant X5XM_011509941.2:c.N/AUpstream Transcript Variant
TNNT2 transcript variant X12XM_011509942.2:c.N/AUpstream Transcript Variant
TNNT2 transcript variant X13XM_011509943.2:c.N/AUpstream Transcript Variant
TNNT2 transcript variant X14XM_011509944.2:c.N/AUpstream Transcript Variant
TNNT2 transcript variant X15XM_011509946.1:c.N/AUpstream Transcript Variant
TNNT2 transcript variant X7XM_017002216.1:c.N/AUpstream Transcript Variant
TNNT2 transcript variant X11XM_017002217.1:c.N/AUpstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.166G=0.834
1000GenomesAmericanSub694A=0.060G=0.940
1000GenomesEast AsianSub1008A=0.037G=0.963
1000GenomesEuropeSub1006A=0.088G=0.912
1000GenomesGlobalStudy-wide5008A=0.082G=0.918
1000GenomesSouth AsianSub978A=0.030G=0.970
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.086G=0.914
The Genome Aggregation DatabaseAfricanSub8702A=0.156G=0.844
The Genome Aggregation DatabaseAmericanSub838A=0.070G=0.930
The Genome Aggregation DatabaseEast AsianSub1620A=0.030G=0.970
The Genome Aggregation DatabaseEuropeSub18464A=0.090G=0.909
The Genome Aggregation DatabaseGlobalStudy-wide29926A=0.106G=0.893
The Genome Aggregation DatabaseOtherSub302A=0.120G=0.880
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.123G=0.876
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.093G=0.907
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
rs27996861.6E-05alcoholism (heaviness of drinking)21529783

eQTL of rs2799686 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 rs2799686 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 )
chr1201303553201303870E071-43445
chr1201304014201304848E072-42467
chr1201352907201353098E0725592
chr1201353187201353549E0725872
chr1201353599201353854E0726284
chr1201346576201347821E0730
chr1201304014201304848E074-42467
chr1201333763201334178E081-13137
chr1201334237201334409E081-12906
chr1201333763201334178E082-13137