rs3120701

Homo sapiens
C>T
TFB2M : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0236 (7037/29724,GnomAD)
T=0243 (7097/29116,TOPMED)
T=0160 (800/5008,1000G)
T=0278 (1071/3854,ALSPAC)
T=0286 (1060/3708,TWINSUK)
chr1:246542837 (GRCh38.p7) (1q44)
ND
GWASdb2
1   publication(s)
See rs on genome
52 Enhancers around
50 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 1NC_000001.11:g.246542837C>T
GRCh37.p13 chr 1NC_000001.10:g.246706139C>T

Gene: TFB2M, transcription factor B2, mitochondrial(minus strand)

Molecule type Change Amino acid[Codon] SO Term
TFB2M transcriptNM_022366.2:c.N/AIntron Variant
TFB2M transcript variant X1XM_011544248.2:c.N/AIntron Variant
TFB2M transcript variant X2XM_017002055.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.827T=0.173
1000GenomesAmericanSub694C=0.780T=0.220
1000GenomesEast AsianSub1008C=0.997T=0.003
1000GenomesEuropeSub1006C=0.694T=0.306
1000GenomesGlobalStudy-wide5008C=0.840T=0.160
1000GenomesSouth AsianSub978C=0.890T=0.110
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.722T=0.278
The Genome Aggregation DatabaseAfricanSub8668C=0.803T=0.197
The Genome Aggregation DatabaseAmericanSub822C=0.820T=0.180
The Genome Aggregation DatabaseEast AsianSub1620C=0.999T=0.001
The Genome Aggregation DatabaseEuropeSub18312C=0.722T=0.277
The Genome Aggregation DatabaseGlobalStudy-wide29724C=0.763T=0.236
The Genome Aggregation DatabaseOtherSub302C=0.690T=0.310
Trans-Omics for Precision MedicineGlobalStudy-wide29116C=0.756T=0.243
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.714T=0.286
PMID Title Author Journal
20158304A genomewide association study of nicotine and alcohol dependence in Australian and Dutch populations.Lind PATwin Res Hum Genet

P-Value

SNP ID p-value Traits Study
rs31207011.86E-05alcohol and nictotine co-dependence20158304

eQTL of rs3120701 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 rs3120701 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 )
chr1246669047246669273E067-36866
chr1246746657246746818E06740518
chr1246746841246747229E06740702
chr1246747242246747338E06741103
chr1246750490246750605E06744351
chr1246746657246746818E06840518
chr1246746841246747229E06840702
chr1246747242246747338E06841103
chr1246750490246750605E06844351
chr1246750851246751292E06844712
chr1246743089246743143E06936950
chr1246743204246743436E06937065
chr1246746657246746818E06940518
chr1246746841246747229E06940702
chr1246747242246747338E06941103
chr1246750851246751292E06944712
chr1246669047246669273E071-36866
chr1246742641246742706E07136502
chr1246743089246743143E07136950
chr1246743204246743436E07137065
chr1246746401246746550E07140262
chr1246746657246746818E07140518
chr1246746841246747229E07140702
chr1246747242246747338E07141103
chr1246747739246747789E07141600
chr1246748426246748692E07142287
chr1246750851246751292E07144712
chr1246732261246732349E07226122
chr1246732464246732528E07226325
chr1246746657246746818E07240518
chr1246746841246747229E07240702
chr1246747242246747338E07241103
chr1246747739246747789E07241600
chr1246748426246748692E07242287
chr1246750490246750605E07244351
chr1246669047246669273E073-36866
chr1246746841246747229E07340702
chr1246747242246747338E07341103
chr1246669047246669273E074-36866
chr1246743089246743143E07436950
chr1246743204246743436E07437065
chr1246746401246746550E07440262
chr1246746657246746818E07440518
chr1246746841246747229E07440702
chr1246747242246747338E07441103
chr1246747739246747789E07441600
chr1246748426246748692E07442287
chr1246750490246750605E07444351
chr1246750851246751292E07444712
chr1246669047246669273E081-36866
chr1246744089246744207E08137950
chr1246669047246669273E082-36866









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr1246669800246669890E067-36249
chr1246669959246670091E067-36048
chr1246670151246671026E067-35113
chr1246728699246728812E06722560
chr1246728898246731061E06722759
chr1246669800246669890E068-36249
chr1246669959246670091E068-36048
chr1246670151246671026E068-35113
chr1246728699246728812E06822560
chr1246728898246731061E06822759
chr1246669800246669890E069-36249
chr1246669959246670091E069-36048
chr1246670151246671026E069-35113
chr1246728699246728812E06922560
chr1246728898246731061E06922759
chr1246669800246669890E070-36249
chr1246669959246670091E070-36048
chr1246670151246671026E070-35113
chr1246728699246728812E07022560
chr1246728898246731061E07022759
chr1246669800246669890E071-36249
chr1246669959246670091E071-36048
chr1246670151246671026E071-35113
chr1246728699246728812E07122560
chr1246728898246731061E07122759
chr1246669800246669890E072-36249
chr1246669959246670091E072-36048
chr1246670151246671026E072-35113
chr1246728699246728812E07222560
chr1246728898246731061E07222759
chr1246669800246669890E073-36249
chr1246669959246670091E073-36048
chr1246670151246671026E073-35113
chr1246728699246728812E07322560
chr1246728898246731061E07322759
chr1246669800246669890E074-36249
chr1246669959246670091E074-36048
chr1246670151246671026E074-35113
chr1246728699246728812E07422560
chr1246728898246731061E07422759
chr1246669800246669890E081-36249
chr1246669959246670091E081-36048
chr1246670151246671026E081-35113
chr1246728699246728812E08122560
chr1246728898246731061E08122759
chr1246669800246669890E082-36249
chr1246669959246670091E082-36048
chr1246670151246671026E082-35113
chr1246728699246728812E08222560
chr1246728898246731061E08222759