rs882020

Homo sapiens
C>T
MYL7 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0164 (4933/29926,GnomAD)
T=0159 (4655/29118,TOPMED)
T=0174 (872/5008,1000G)
T=0127 (490/3854,ALSPAC)
T=0130 (483/3708,TWINSUK)
chr7:44139144 (GRCh38.p7) (7p13)
AD
GWASdb2
3   publication(s)
See rs on genome
185 Enhancers around
27 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 7NC_000007.14:g.44139144C>T
GRCh37.p13 chr 7NC_000007.13:g.44178743C>T

Gene: MYL7, myosin light chain 7(minus strand)

Molecule type Change Amino acid[Codon] SO Term
MYL7 transcriptNM_021223.2:c.N/AIntron Variant
MYL7 transcript variant X5XM_005249817.4:c.N/AIntron Variant
MYL7 transcript variant X1XM_011515463.2:c.N/AIntron Variant
MYL7 transcript variant X2XM_011515464.2:c.N/AIntron Variant
MYL7 transcript variant X4XM_011515465.2:c.N/AIntron Variant
MYL7 transcript variant X6XM_017012478.1:c.N/AIntron Variant
MYL7 transcript variant X7XM_017012479.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.811T=0.189
1000GenomesAmericanSub694C=0.810T=0.190
1000GenomesEast AsianSub1008C=0.816T=0.184
1000GenomesEuropeSub1006C=0.878T=0.122
1000GenomesGlobalStudy-wide5008C=0.826T=0.174
1000GenomesSouth AsianSub978C=0.820T=0.180
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.873T=0.127
The Genome Aggregation DatabaseAfricanSub8712C=0.823T=0.177
The Genome Aggregation DatabaseAmericanSub834C=0.810T=0.190
The Genome Aggregation DatabaseEast AsianSub1620C=0.827T=0.173
The Genome Aggregation DatabaseEuropeSub18458C=0.842T=0.157
The Genome Aggregation DatabaseGlobalStudy-wide29926C=0.835T=0.164
The Genome Aggregation DatabaseOtherSub302C=0.870T=0.130
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.840T=0.159
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.870T=0.130
PMID Title Author Journal
20144192Chromosome 7p linkage and association study for diabetes related traits and type 2 diabetes in an African-American population enriched for nephropathy.Leak TSBMC Med Genet
21314694Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of schizophrenia (MGS2) control sample.Kendler KSAlcohol Clin Exp Res
17186458A common haplotype of the glucokinase gene alters fasting glucose and birth weight: association in six studies and population-genetics analyses.Weedon MNAm J Hum Genet

P-Value

SNP ID p-value Traits Study
rs8820200.000423alcohol dependence21314694

eQTL of rs882020 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr7:44178743MYL7ENSG00000106631.4C>T9.3447e-3-2188Hypothalamus
Chr7:44178743MYL7ENSG00000106631.4C>T7.7228e-3-2188Nucleus_accumbens_basal_ganglia

meQTL of rs882020 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 )
chr74413385244134010E067-44733
chr74413402244134072E067-44671
chr74413407744134316E067-44427
chr74413438644134912E067-43831
chr74413491944135039E067-43704
chr74414096644141114E067-37629
chr74414113344141191E067-37552
chr74415393944154297E067-24446
chr74415436244155004E067-23739
chr74415509044155319E067-23424
chr74416137844161613E067-17130
chr74416170244161886E067-16857
chr74416190144162079E067-16664
chr74421750944217634E06738766
chr74421780044217862E06739057
chr74421796844218025E06739225
chr74421819044218240E06739447
chr74413385244134010E068-44733
chr74413402244134072E068-44671
chr74413407744134316E068-44427
chr74413438644134912E068-43831
chr74413491944135039E068-43704
chr74413507244135132E068-43611
chr74413515044135226E068-43517
chr74413537644135426E068-43317
chr74413557344135683E068-43060
chr74414004944140899E068-37844
chr74414096644141114E068-37629
chr74414113344141191E068-37552
chr74414126944141338E068-37405
chr74414144544142977E068-35766
chr74414297844143117E068-35626
chr74414595944146120E068-32623
chr74415117944151229E068-27514
chr74415139644151700E068-27043
chr74415357644153763E068-24980
chr74415393944154297E068-24446
chr74415436244155004E068-23739
chr74415509044155319E068-23424
chr74415547944155916E068-22827
chr74415592044156168E068-22575
chr74416170244161886E068-16857
chr74416190144162079E068-16664
chr74419735644197406E06818613
chr74419761944197714E06818876
chr74419775244197802E06819009
chr74419800744198077E06819264
chr74419874844198886E06820005
chr74419906044199114E06820317
chr74419918944199257E06820446
chr74419938744199683E06820644
chr74421725444217406E06838511
chr74421750944217634E06838766
chr74421780044217862E06839057
chr74421796844218025E06839225
chr74421819044218240E06839447
chr74422743944227945E06848696
chr74422799044228042E06849247
chr74422808244228132E06849339
chr74414004944140899E069-37844
chr74414096644141114E069-37629
chr74414113344141191E069-37552
chr74415393944154297E069-24446
chr74415436244155004E069-23739
chr74415509044155319E069-23424
chr74415547944155916E069-22827
chr74415592044156168E069-22575
chr74415913944159335E069-19408
chr74415937944159450E069-19293
chr74416137844161613E069-17130
chr74416170244161886E069-16857
chr74416190144162079E069-16664
chr74418672744188102E0697984
chr74422743944227945E06948696
chr74422799044228042E06949247
chr74422808244228132E06949339
chr74414297844143117E070-35626
chr74414595944146120E070-32623
chr74414620744146342E070-32401
chr74414638144146575E070-32168
chr74414993344150312E070-28431
chr74415117944151229E070-27514
chr74415139644151700E070-27043
chr74415357644153763E070-24980
chr74415393944154297E070-24446
chr74415436244155004E070-23739
chr74415509044155319E070-23424
chr74415547944155916E070-22827
chr74415592044156168E070-22575
chr74415629744156425E070-22318
chr74415974844159858E070-18885
chr74415995744160134E070-18609
chr74416019044160257E070-18486
chr74416051044160550E070-18193
chr74416058444160727E070-18016
chr74416079844160842E070-17901
chr74416093844161060E070-17683
chr74416126344161375E070-17368
chr74416137844161613E070-17130
chr74418672744188102E0707984
chr74413438644134912E071-43831
chr74413491944135039E071-43704
chr74413507244135132E071-43611
chr74413515044135226E071-43517
chr74413537644135426E071-43317
chr74413998044140045E071-38698
chr74414004944140899E071-37844
chr74414096644141114E071-37629
chr74414113344141191E071-37552
chr74414126944141338E071-37405
chr74414144544142977E071-35766
chr74414297844143117E071-35626
chr74415357644153763E071-24980
chr74415393944154297E071-24446
chr74415436244155004E071-23739
chr74415509044155319E071-23424
chr74415547944155916E071-22827
chr74415592044156168E071-22575
chr74416170244161886E071-16857
chr74416190144162079E071-16664
chr74418672744188102E0717984
chr74422743944227945E07148696
chr74422799044228042E07149247
chr74422808244228132E07149339
chr74413998044140045E072-38698
chr74414004944140899E072-37844
chr74414096644141114E072-37629
chr74414113344141191E072-37552
chr74414126944141338E072-37405
chr74414144544142977E072-35766
chr74414297844143117E072-35626
chr74415357644153763E072-24980
chr74415393944154297E072-24446
chr74415436244155004E072-23739
chr74415509044155319E072-23424
chr74415547944155916E072-22827
chr74415592044156168E072-22575
chr74416170244161886E072-16857
chr74416190144162079E072-16664
chr74418332144183500E0724578
chr74418672744188102E0727984
chr74421780044217862E07239057
chr74421796844218025E07239225
chr74421819044218240E07239447
chr74414144544142977E073-35766
chr74415393944154297E073-24446
chr74415436244155004E073-23739
chr74415509044155319E073-23424
chr74416137844161613E073-17130
chr74416170244161886E073-16857
chr74416190144162079E073-16664
chr74422743944227945E07348696
chr74422799044228042E07349247
chr74422808244228132E07349339
chr74413998044140045E074-38698
chr74414004944140899E074-37844
chr74414096644141114E074-37629
chr74415393944154297E074-24446
chr74415436244155004E074-23739
chr74415509044155319E074-23424
chr74415547944155916E074-22827
chr74416170244161886E074-16857
chr74416190144162079E074-16664
chr74417465644175473E074-3270
chr74418443144184495E0745688
chr74418672744188102E0747984
chr74422743944227945E07448696
chr74422799044228042E07449247
chr74422808244228132E07449339
chr74414144544142977E081-35766
chr74416137844161613E081-17130
chr74416170244161886E081-16857
chr74416190144162079E081-16664
chr74416417144164334E081-14409
chr74418332144183500E0814578
chr74418350244183900E0814759
chr74418404044184080E0815297
chr74418414244184256E0815399
chr74418427544184319E0815532
chr74418435044184400E0815607
chr74418443144184495E0815688
chr74414993344150312E082-28431
chr74416126344161375E082-17368
chr74416137844161613E082-17130
chr74418443144184495E0825688










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr74416218344164076E067-14667
chr74418476944186679E0676026
chr74414312744145697E068-33046
chr74416218344164076E068-14667
chr74418476944186679E0686026
chr74414312744145697E069-33046
chr74416218344164076E069-14667
chr74418476944186679E0696026
chr74414312744145697E070-33046
chr74416218344164076E070-14667
chr74418476944186679E0706026
chr74414312744145697E071-33046
chr74416218344164076E071-14667
chr74418476944186679E0716026
chr74414312744145697E072-33046
chr74416218344164076E072-14667
chr74418476944186679E0726026
chr74414312744145697E073-33046
chr74416218344164076E073-14667
chr74418476944186679E0736026
chr74414312744145697E074-33046
chr74416218344164076E074-14667
chr74418476944186679E0746026
chr74416218344164076E081-14667
chr74414312744145697E082-33046
chr74416218344164076E082-14667
chr74418476944186679E0826026