rs10972978

Homo sapiens
A>G
MELK : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0146 (4376/29934,GnomAD)
G=0164 (4798/29118,TOPMED)
G=0162 (811/5008,1000G)
G=0105 (403/3854,ALSPAC)
G=0103 (383/3708,TWINSUK)
chr9:36576850 (GRCh38.p7) (9p13.2)
AD
GWASdb2
1   publication(s)
See rs on genome

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 9NC_000009.12:g.36576850A>G
GRCh37.p13 chr 9NC_000009.11:g.36576847A>G

Gene: MELK, maternal embryonic leucine zipper kinase(plus strand)

Molecule type Change Amino acid[Codon] SO Term
MELK transcript variant 2NM_001256685.1:c.N/AIntron Variant
MELK transcript variant 3NM_001256687.1:c.N/AIntron Variant
MELK transcript variant 4NM_001256688.1:c.N/AIntron Variant
MELK transcript variant 5NM_001256689.1:c.N/AIntron Variant
MELK transcript variant 6NM_001256690.1:c.N/AIntron Variant
MELK transcript variant 7NM_001256691.1:c.N/AIntron Variant
MELK transcript variant 8NM_001256692.1:c.N/AIntron Variant
MELK transcript variant 9NM_001256693.1:c.N/AIntron Variant
MELK transcript variant 1NM_014791.3:c.N/AIntron Variant
MELK transcript variant 10NR_046337.1:n.N/AIntron Variant
MELK transcript variant X1XM_011518076.2:c.N/AIntron Variant
MELK transcript variant X2XM_011518077.1:c.N/AIntron Variant
MELK transcript variant X3XM_011518078.2:c.N/AIntron Variant
MELK transcript variant X5XM_011518080.1:c.N/AIntron Variant
MELK transcript variant X7XM_011518081.2:c.N/AIntron Variant
MELK transcript variant X6XM_011518082.2:c.N/AIntron Variant
MELK transcript variant X8XM_011518083.2:c.N/AIntron Variant
MELK transcript variant X10XM_011518085.1:c.N/AIntron Variant
MELK transcript variant X11XM_011518086.2:c.N/AIntron Variant
MELK transcript variant X4XM_011518079.1:c.N/AGenic Upstream Transcript Variant
MELK transcript variant X9XM_011518084.2:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.745G=0.255
1000GenomesAmericanSub694A=0.910G=0.090
1000GenomesEast AsianSub1008A=0.886G=0.114
1000GenomesEuropeSub1006A=0.891G=0.109
1000GenomesGlobalStudy-wide5008A=0.838G=0.162
1000GenomesSouth AsianSub978A=0.810G=0.190
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.895G=0.105
The Genome Aggregation DatabaseAfricanSub8708A=0.762G=0.238
The Genome Aggregation DatabaseAmericanSub834A=0.930G=0.070
The Genome Aggregation DatabaseEast AsianSub1616A=0.905G=0.095
The Genome Aggregation DatabaseEuropeSub18476A=0.888G=0.111
The Genome Aggregation DatabaseGlobalStudy-wide29934A=0.853G=0.146
The Genome Aggregation DatabaseOtherSub300A=0.890G=0.110
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.835G=0.164
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.897G=0.103
PMID Title Author Journal
21314694Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of schizophrenia (MGS2) control sample.Kendler KSAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs109729780.000325alcohol dependence21314694

eQTL of rs10972978 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 rs10972978 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 )
chr93656657236566709E067-10138
chr93656672636567223E067-9624
chr93656744836567550E067-9297
chr93656635336566403E068-10444
chr93656657236566709E068-10138
chr93656672636567223E068-9624
chr93656744836567550E068-9297
chr93656657236566709E069-10138
chr93656672636567223E069-9624
chr93656744836567550E069-9297
chr93656635336566403E071-10444
chr93656657236566709E071-10138
chr93656672636567223E071-9624
chr93656744836567550E071-9297
chr93656769136567771E071-9076
chr93662487036625666E07148023
chr93656672636567223E072-9624
chr93656744836567550E072-9297
chr93656672636567223E073-9624
chr93656744836567550E073-9297
chr93662435736624766E07347510
chr93662487036625666E07348023
chr93655573836556172E074-20675
chr93656635336566403E074-10444
chr93656657236566709E074-10138
chr93656672636567223E074-9624
chr93656744836567550E074-9297







Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr93657235036573530E067-3317
chr93657235036573530E068-3317
chr93657197836572250E069-4597
chr93657235036573530E069-3317
chr93657235036573530E070-3317
chr93657235036573530E071-3317
chr93657197836572250E072-4597
chr93657235036573530E072-3317
chr93657197836572250E073-4597
chr93657235036573530E073-3317
chr93657235036573530E074-3317
chr93657235036573530E081-3317
chr93657197836572250E082-4597
chr93657235036573530E082-3317