rs9977521

Homo sapiens
C>T
SIM2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C==0462 (13806/29876,GnomAD)
C==0498 (14525/29118,TOPMED)
C==0443 (2217/5008,1000G)
C==0408 (1573/3854,ALSPAC)
C==0416 (1542/3708,TWINSUK)
chr21:36710512 (GRCh38.p7) (21q22.13)
AD
GWASdb2
1   publication(s)
See rs on genome
60 Enhancers around
6 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 21NC_000021.9:g.36710512C>T
GRCh37.p13 chr 21NC_000021.8:g.38082812C>T
SIM2 RefSeqGeneNG_029519.1:g.15822C>T

Gene: SIM2, single-minded family bHLH transcription factor 2(plus strand)

Molecule type Change Amino acid[Codon] SO Term
SIM2 transcript variant SIM2NM_005069.4:c.N/AIntron Variant
SIM2 transcript variant SIM2sNM_009586.3:c.N/AIntron Variant
SIM2 transcript variant X2XM_017028442.1:c.N/AIntron Variant
SIM2 transcript variant X1XM_011529694.1:c.N/A5 Prime UTR Variant
SIM2 transcript variant X3XR_001754891.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.638T=0.362
1000GenomesAmericanSub694C=0.410T=0.590
1000GenomesEast AsianSub1008C=0.331T=0.669
1000GenomesEuropeSub1006C=0.411T=0.589
1000GenomesGlobalStudy-wide5008C=0.443T=0.557
1000GenomesSouth AsianSub978C=0.350T=0.650
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.408T=0.592
The Genome Aggregation DatabaseAfricanSub8690C=0.627T=0.373
The Genome Aggregation DatabaseAmericanSub836C=0.380T=0.620
The Genome Aggregation DatabaseEast AsianSub1610C=0.337T=0.663
The Genome Aggregation DatabaseEuropeSub18440C=0.401T=0.598
The Genome Aggregation DatabaseGlobalStudy-wide29876C=0.462T=0.537
The Genome Aggregation DatabaseOtherSub300C=0.340T=0.660
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.498T=0.501
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.416T=0.584
PMID Title Author Journal
24277619ALDH2 is associated to alcohol dependence and is the major genetic determinant of "daily maximum drinks" in a GWAS study of an isolated rural Chinese sample.Quillen EEAm J Med Genet B Neuropsychiatr Genet

P-Value

SNP ID p-value Traits Study
rs99775210.000978alcohol dependence24277619

eQTL of rs9977521 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 rs9977521 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 )
chr213809097538091030E0678163
chr213809119338092389E0678381
chr213812931238129398E06746500
chr213812940838129458E06746596
chr213812961838129808E06746806
chr213812992638130017E06747114
chr213813014438130201E06747332
chr213809097538091030E0688163
chr213812931238129398E06846500
chr213812940838129458E06846596
chr213812961838129808E06846806
chr213812992638130017E06847114
chr213813014438130201E06847332
chr213809077538090869E0697963
chr213809089438090934E0698082
chr213809097538091030E0698163
chr213809119338092389E0698381
chr213811760138117651E06934789
chr213811766338117745E06934851
chr213812813238128256E06945320
chr213812827938128370E06945467
chr213812890338129183E06946091
chr213812931238129398E06946500
chr213812940838129458E06946596
chr213812961838129808E06946806
chr213809097538091030E0718163
chr213809119338092389E0718381
chr213812931238129398E07146500
chr213812940838129458E07146596
chr213812961838129808E07146806
chr213812992638130017E07147114
chr213813014438130201E07147332
chr213809077538090869E0727963
chr213809089438090934E0728082
chr213809097538091030E0728163
chr213809119338092389E0728381
chr213811810838118222E07235296
chr213812890338129183E07246091
chr213812931238129398E07246500
chr213812940838129458E07246596
chr213812961838129808E07246806
chr213812992638130017E07247114
chr213813014438130201E07247332
chr213809119338092389E0738381
chr213809097538091030E0748163
chr213809119338092389E0748381
chr213812940838129458E07446596
chr213812961838129808E07446806
chr213812992638130017E07447114
chr213813014438130201E07447332
chr213803635738036729E081-46083
chr213803673638036798E081-46014
chr213803685438036930E081-45882
chr213803700838037134E081-45678
chr213804418338044419E081-38393
chr213804470038044776E081-38036
chr213811696938117419E08134157
chr213811696938117419E08234157
chr213811760138117651E08234789
chr213811766338117745E08234851









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr213811903938121247E06836227
chr213811903938121247E06936227
chr213811903938121247E07136227
chr213811903938121247E07236227
chr213811903938121247E07336227
chr213811903938121247E08236227