rs10500204

Homo sapiens
A>C
INSR : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0237 (6905/29118,TOPMED)
C=0240 (7011/29102,GnomAD)
C=0232 (1162/5008,1000G)
C=0270 (1041/3854,ALSPAC)
C=0269 (999/3708,TWINSUK)
chr19:7182952 (GRCh38.p7) (19p13.2)
AD
GWASdb2
3   publication(s)
See rs on genome
166 Enhancers around
10 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 19NC_000019.10:g.7182952A>C
GRCh37.p13 chr 19NC_000019.9:g.7182963A>C
INSR RefSeqGeneNG_008852.2:g.116049T>G

Gene: INSR, insulin receptor(minus strand)

Molecule type Change Amino acid[Codon] SO Term
INSR transcript variant 1NM_000208.3:c.N/AIntron Variant
INSR transcript variant 2NM_001079817.2:c.N/AIntron Variant
INSR transcript variant X1XM_011527988.2:c.N/AIntron Variant
INSR transcript variant X2XM_011527989.2:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.790C=0.210
1000GenomesAmericanSub694A=0.740C=0.260
1000GenomesEast AsianSub1008A=0.862C=0.138
1000GenomesEuropeSub1006A=0.678C=0.322
1000GenomesGlobalStudy-wide5008A=0.768C=0.232
1000GenomesSouth AsianSub978A=0.750C=0.250
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.730C=0.270
The Genome Aggregation DatabaseAfricanSub8590A=0.804C=0.196
The Genome Aggregation DatabaseAmericanSub808A=0.730C=0.270
The Genome Aggregation DatabaseEast AsianSub1608A=0.864C=0.136
The Genome Aggregation DatabaseEuropeSub17796A=0.732C=0.267
The Genome Aggregation DatabaseGlobalStudy-wide29102A=0.759C=0.240
The Genome Aggregation DatabaseOtherSub300A=0.590C=0.410
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.762C=0.237
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.731C=0.269
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res
21645371Family association study between INSR gene polymorphisms and PCOS in Han Chinese.Xu XReprod Biol Endocrinol
27730450Candidate gene studies of diabetic retinopathy in human.Priscakova PMol Biol Rep

P-Value

SNP ID p-value Traits Study
rs105002040.00056alcohol dependence20201924

eQTL of rs10500204 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 rs10500204 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 )
chr1972138357213997E06730872
chr1972222227222308E06739259
chr1972224247222474E06739461
chr1972240387224100E06741075
chr1972268617227117E06743898
chr1972275347228091E06744571
chr1972281387228201E06745175
chr1972282587228318E06745295
chr1972283537228426E06745390
chr1972284527228507E06745489
chr1972293977229469E06746434
chr1971990767199251E06816113
chr1972112547212078E06828291
chr1972249967225211E06842033
chr1972254417225553E06842478
chr1972255917225690E06842628
chr1972265157226559E06843552
chr1972266617226705E06843698
chr1972268617227117E06843898
chr1972275347228091E06844571
chr1972281387228201E06845175
chr1972282587228318E06845295
chr1972283537228426E06845390
chr1972284527228507E06845489
chr1971790187180209E069-2754
chr1971923057192896E0699342
chr1971990767199251E06916113
chr1971993027199369E06916339
chr1972058677205932E06922904
chr1972059937206200E06923030
chr1972062227206272E06923259
chr1972063577206452E06923394
chr1972112547212078E06928291
chr1972121257212302E06929162
chr1972123887212522E06929425
chr1972234777223748E06940514
chr1972240387224100E06941075
chr1972249967225211E06942033
chr1972266617226705E06943698
chr1972268617227117E06943898
chr1972275347228091E06944571
chr1972281387228201E06945175
chr1972282587228318E06945295
chr1972283537228426E06945390
chr1972284527228507E06945489
chr1972308477231280E06947884
chr1971790187180209E070-2754
chr1971889217189473E0705958
chr1971993027199369E07016339
chr1971994547199548E07016491
chr1972240387224100E07041075
chr1972248167224946E07041853
chr1972249967225211E07042033
chr1972283537228426E07045390
chr1972284527228507E07045489
chr1971842187184278E0711255
chr1971843367184521E0711373
chr1971915107191639E0718547
chr1971917137191763E0718750
chr1971919657192015E0719002
chr1971921547192215E0719191
chr1971923057192896E0719342
chr1972112547212078E07128291
chr1972121257212302E07129162
chr1972123887212522E07129425
chr1972133717213788E07130408
chr1972138357213997E07130872
chr1972140387214866E07131075
chr1972148967214956E07131933
chr1972150237215162E07132060
chr1972151707215540E07132207
chr1972222227222308E07139259
chr1972224247222474E07139461
chr1972240387224100E07141075
chr1972242727224801E07141309
chr1972248167224946E07141853
chr1972249967225211E07142033
chr1972254417225553E07142478
chr1972255917225690E07142628
chr1972257897225871E07142826
chr1972265157226559E07143552
chr1972266617226705E07143698
chr1972268617227117E07143898
chr1972275347228091E07144571
chr1972281387228201E07145175
chr1972282587228318E07145295
chr1972283537228426E07145390
chr1972284527228507E07145489
chr1972304267230534E07147463
chr1972307197230785E07147756
chr1972308477231280E07147884
chr1971923057192896E0729342
chr1971990767199251E07216113
chr1971993027199369E07216339
chr1971994547199548E07216491
chr1972109887211128E07228025
chr1972112547212078E07228291
chr1972150237215162E07232060
chr1972151707215540E07232207
chr1972224247222474E07239461
chr1972240387224100E07241075
chr1972242727224801E07241309
chr1972248167224946E07241853
chr1972249967225211E07242033
chr1972254417225553E07242478
chr1972255917225690E07242628
chr1972257897225871E07242826
chr1972265157226559E07243552
chr1972266617226705E07243698
chr1972268617227117E07243898
chr1972275347228091E07244571
chr1972281387228201E07245175
chr1972282587228318E07245295
chr1972283537228426E07245390
chr1972284527228507E07245489
chr1972308477231280E07247884
chr1971789407178994E073-3969
chr1971990767199251E07316113
chr1971993027199369E07316339
chr1971994547199548E07316491
chr1972150237215162E07332060
chr1972151707215540E07332207
chr1972242727224801E07341309
chr1972248167224946E07341853
chr1972268617227117E07343898
chr1972281387228201E07345175
chr1972282587228318E07345295
chr1972283537228426E07345390
chr1972284527228507E07345489
chr1972293977229469E07346434
chr1971790187180209E074-2754
chr1971919657192015E0749002
chr1971921547192215E0749191
chr1971923057192896E0749342
chr1971990767199251E07416113
chr1971993027199369E07416339
chr1972058677205932E07422904
chr1972059937206200E07423030
chr1972062227206272E07423259
chr1972063577206452E07423394
chr1972066717206758E07423708
chr1972112547212078E07428291
chr1972121257212302E07429162
chr1972222227222308E07439259
chr1972248167224946E07441853
chr1972249967225211E07442033
chr1972254417225553E07442478
chr1972255917225690E07442628
chr1972257897225871E07442826
chr1972265157226559E07443552
chr1972266617226705E07443698
chr1972268617227117E07443898
chr1972275347228091E07444571
chr1972281387228201E07445175
chr1972282587228318E07445295
chr1972283537228426E07445390
chr1972284527228507E07445489
chr1972301827230322E07447219
chr1972304267230534E07447463
chr1972307197230785E07447756
chr1972308477231280E07447884
chr1971990767199251E08116113
chr1972248167224946E08141853
chr1972249967225211E08142033
chr1971790187180209E082-2754
chr1972248167224946E08241853










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr1971962317198894E06713268
chr1971962317198894E06813268
chr1971962317198894E06913268
chr1971962317198894E07013268
chr1971962317198894E07113268
chr1971962317198894E07213268
chr1971962317198894E07313268
chr1971962317198894E07413268
chr1971962317198894E08113268
chr1971962317198894E08213268