rs7091723

Homo sapiens
C>A
MASTL : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C==0391 (11713/29906,GnomAD)
C==0407 (11862/29118,TOPMED)
C==0494 (2475/5008,1000G)
C==0347 (1339/3854,ALSPAC)
C==0363 (1345/3708,TWINSUK)
chr10:27177236 (GRCh38.p7) (10p12.1)
AD
GWASdb2
1   publication(s)
See rs on genome
10 Enhancers around
32 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 10NC_000010.11:g.27177236C>A
GRCh37.p13 chr 10NC_000010.10:g.27466165C>A
MASTL RefSeqGeneNG_016987.1:g.27413C>A

Gene: MASTL, microtubule associated serine/threonine kinase like(plus strand)

Molecule type Change Amino acid[Codon] SO Term
MASTL transcript variant 1NM_001172303.2:c.N/AIntron Variant
MASTL transcript variant 3NM_001172304.2:c.N/AIntron Variant
MASTL transcript variant 4NM_001320756.1:c.N/AIntron Variant
MASTL transcript variant 5NM_001320757.1:c.N/AIntron Variant
MASTL transcript variant 2NM_032844.4:c.N/AIntron Variant
MASTL transcript variant 6NR_135469.1:n.N/AIntron Variant
MASTL transcript variant X3XM_005252631.3:c.N/AIntron Variant
MASTL transcript variant X5XM_005252632.3:c.N/AIntron Variant
MASTL transcript variant X1XM_006717519.3:c.N/AIntron Variant
MASTL transcript variant X6XM_006717520.3:c.N/AIntron Variant
MASTL transcript variant X11XM_011519751.2:c.N/AIntron Variant
MASTL transcript variant X2XM_017016852.1:c.N/AIntron Variant
MASTL transcript variant X4XM_017016853.1:c.N/AIntron Variant
MASTL transcript variant X7XM_017016854.1:c.N/AIntron Variant
MASTL transcript variant X8XM_017016855.1:c.N/AIntron Variant
MASTL transcript variant X9XM_017016856.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.470A=0.530
1000GenomesAmericanSub694C=0.480A=0.520
1000GenomesEast AsianSub1008C=0.562A=0.438
1000GenomesEuropeSub1006C=0.398A=0.602
1000GenomesGlobalStudy-wide5008C=0.494A=0.506
1000GenomesSouth AsianSub978C=0.570A=0.430
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.347A=0.653
The Genome Aggregation DatabaseAfricanSub8692C=0.445A=0.555
The Genome Aggregation DatabaseAmericanSub836C=0.450A=0.550
The Genome Aggregation DatabaseEast AsianSub1608C=0.575A=0.425
The Genome Aggregation DatabaseEuropeSub18470C=0.348A=0.651
The Genome Aggregation DatabaseGlobalStudy-wide29906C=0.391A=0.608
The Genome Aggregation DatabaseOtherSub300C=0.360A=0.640
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.407A=0.592
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.363A=0.637
PMID Title Author Journal

P-Value

SNP ID p-value Traits Study
rs70917238.08E-05alcohol consumptionpha001399

eQTL of rs7091723 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr10:27466165LINC00202-1ENSG00000232224.1C>A9.0744e-14235235Cerebellum
Chr10:27466165MASTLENSG00000120539.10C>A2.9942e-2121969Cerebellum
Chr10:27466165LRRC37A6PENSG00000230445.4C>A8.3349e-11-82219Cerebellum
Chr10:27466165MASTLENSG00000120539.10C>A4.1233e-421969Hypothalamus
Chr10:27466165MASTLENSG00000120539.10C>A3.8070e-1821969Cerebellar_Hemisphere
Chr10:27466165LRRC37A6PENSG00000230445.4C>A5.0274e-6-82219Cerebellar_Hemisphere
Chr10:27466165MASTLENSG00000120539.10C>A5.2668e-1121969Caudate_basal_ganglia
Chr10:27466165MASTLENSG00000120539.10C>A3.4199e-321969Brain_Spinal_cord_cervical
Chr10:27466165MASTLENSG00000120539.10C>A4.5595e-621969Hippocampus
Chr10:27466165MASTLENSG00000120539.10C>A1.1095e-621969Putamen_basal_ganglia

meQTL of rs7091723 in Fetal Brain

Probe ID Position Gene beta p-value
cg14442939chr10:27389572ANKRD26-0.01976929877816652.1940e-28

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 )
chr102743659527436779E069-29386
chr102743680827436959E069-29206
chr102743945627439524E069-26641
chr102743956627439745E069-26420
chr102744100127441055E073-25110
chr102748126427481514E07415099
chr102744606627446423E081-19742
chr102743945627439524E082-26641
chr102743956627439745E082-26420
chr102744606627446423E082-19742





Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr102744228627442346E067-23819
chr102744243327443606E067-22559
chr102744362127445515E067-20650
chr102744228627442346E068-23819
chr102744243327443606E068-22559
chr102744362127445515E068-20650
chr102744228627442346E069-23819
chr102744243327443606E069-22559
chr102744362127445515E069-20650
chr102744228627442346E070-23819
chr102744243327443606E070-22559
chr102744362127445515E070-20650
chr102744558427445727E070-20438
chr102744228627442346E071-23819
chr102744243327443606E071-22559
chr102744362127445515E071-20650
chr102744228627442346E072-23819
chr102744243327443606E072-22559
chr102744362127445515E072-20650
chr102744228627442346E073-23819
chr102744243327443606E073-22559
chr102744362127445515E073-20650
chr102744228627442346E074-23819
chr102744243327443606E074-22559
chr102744362127445515E074-20650
chr102744228627442346E081-23819
chr102744243327443606E081-22559
chr102744362127445515E081-20650
chr102744228627442346E082-23819
chr102744243327443606E082-22559
chr102744362127445515E082-20650
chr102744558427445727E082-20438