rs11260542

Homo sapiens
A>G
TTLL10-AS1 : Non Coding Transcript Variant
TTLL10 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0145 (4345/29954,GnomAD)
G=0155 (4536/29118,TOPMED)
G=0145 (724/5008,1000G)
G=0090 (346/3854,ALSPAC)
G=0094 (350/3708,TWINSUK)
chr1:1174639 (GRCh38.p7) (1p36.33)
AD
GWASdb2
1   publication(s)
See rs on genome

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 1NC_000001.11:g.1174639A>G
GRCh37.p13 chr 1NC_000001.10:g.1110019A>G

Gene: TTLL10, tubulin tyrosine ligase like 10(plus strand)

Molecule type Change Amino acid[Codon] SO Term
TTLL10 transcript variant 1NM_001130045.1:c.N/AIntron Variant
TTLL10 transcript variant 2NM_153254.2:c.N/AGenic Upstream Transcript Variant
TTLL10 transcript variant X7XM_011541177.2:c.N/AIntron Variant
TTLL10 transcript variant X10XM_005244738.1:c.N/AGenic Upstream Transcript Variant
TTLL10 transcript variant X1XM_017000906.1:c.N/AGenic Upstream Transcript Variant
TTLL10 transcript variant X2XM_017000907.1:c.N/AGenic Upstream Transcript Variant
TTLL10 transcript variant X3XM_017000908.1:c.N/AGenic Upstream Transcript Variant
TTLL10 transcript variant X4XM_017000909.1:c.N/AGenic Upstream Transcript Variant
TTLL10 transcript variant X5XM_017000910.1:c.N/AGenic Upstream Transcript Variant
TTLL10 transcript variant X6XM_017000911.1:c.N/AGenic Upstream Transcript Variant
TTLL10 transcript variant X8XM_017000912.1:c.N/AGenic Upstream Transcript Variant
TTLL10 transcript variant X11XR_001737089.1:n.N/AIntron Variant
TTLL10 transcript variant X9XR_001737088.1:n.N/AGenic Upstream Transcript Variant

Gene: TTLL10-AS1, uncharacterized TTLL10-AS1(minus strand)

Molecule type Change Amino acid[Codon] SO Term
TTLL10-AS1 transcript variant X2XR_132470.6:n.204...XR_132470.6:n.2042T>CT>CNon Coding Transcript Variant
TTLL10-AS1 transcript variant X1XR_946813.2:n.N/AGenic Downstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.720G=0.280
1000GenomesAmericanSub694A=0.940G=0.060
1000GenomesEast AsianSub1008A=0.874G=0.126
1000GenomesEuropeSub1006A=0.915G=0.085
1000GenomesGlobalStudy-wide5008A=0.855G=0.145
1000GenomesSouth AsianSub978A=0.900G=0.100
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.910G=0.090
The Genome Aggregation DatabaseAfricanSub8712A=0.751G=0.249
The Genome Aggregation DatabaseAmericanSub838A=0.940G=0.060
The Genome Aggregation DatabaseEast AsianSub1622A=0.900G=0.100
The Genome Aggregation DatabaseEuropeSub18480A=0.895G=0.104
The Genome Aggregation DatabaseGlobalStudy-wide29954A=0.854G=0.145
The Genome Aggregation DatabaseOtherSub302A=0.900G=0.100
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.844G=0.155
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.906G=0.094
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
rs112605420.000824alcohol dependence20201924

eQTL of rs11260542 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr1:1110019TTLL10-AS1ENSG00000205231.1A>G1.6930e-8-4916Caudate_basal_ganglia
Chr1:1110019TTLL10ENSG00000162571.9A>G1.8731e-3-4550Putamen_basal_ganglia
Chr1:1110019TTLL10-AS1ENSG00000205231.1A>G2.6159e-6-4916Putamen_basal_ganglia
Chr1:1110019ATAD3BENSG00000160072.15A>G9.4871e-12-297124Putamen_basal_ganglia
Chr1:1110019TTLL10ENSG00000162571.9A>G2.3570e-2-4550Nucleus_accumbens_basal_ganglia

meQTL of rs11260542 in Fetal Brain

Probe ID Position Gene beta p-value
cg10143960chr1:1109486TTLL100.1583262519818812.5673e-32
cg01961752chr1:1109012TTLL100.0488465229845772.7681e-10

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 )
chr110943841094466E067-15553
chr111186891118886E0678670
chr111194601119525E0679441
chr111204941120645E06710475
chr111207561120865E06710737
chr110943841094466E068-15553
chr111204941120645E06810475
chr111207561120865E06810737
chr110943841094466E069-15553
chr111204941120645E06910475
chr111207561120865E06910737
chr111434151144181E06933396
chr111443741144552E06934355
chr110702901070359E070-39660
chr111204941120645E07110475
chr111207561120865E07110737
chr111407341140952E07130715
chr111434151144181E07133396
chr110891861089253E072-20766
chr110893351089583E072-20436
chr110922831092675E072-17344
chr110943841094466E072-15553
chr111186891118886E0728670
chr111194601119525E0729441
chr111204941120645E07210475
chr111207561120865E07210737
chr111434151144181E07233396
chr111443741144552E07234355
chr110943841094466E073-15553
chr110922831092675E074-17344
chr110943841094466E074-15553
chr111186891118886E0748670
chr111204941120645E07410475
chr111207561120865E07410737
chr110702901070359E081-39660
chr110706741071648E081-38371
chr110717301073509E081-36510
chr110943841094466E081-15553
chr111434151144181E08133396
chr111443741144552E08134355
chr111434151144181E08233396










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr110927841094167E067-15852
chr110927841094167E068-15852
chr110927841094167E069-15852
chr111367171137192E06926698
chr110927841094167E070-15852
chr111360241136620E07026005
chr111367171137192E07026698
chr110927841094167E071-15852
chr111360241136620E07126005
chr111367171137192E07126698
chr110927841094167E072-15852
chr110927841094167E073-15852
chr110927841094167E074-15852
chr110927841094167E082-15852
chr111360241136620E08226005
chr111367171137192E08226698