rs1864193

Homo sapiens
C>A
INSR : 3 Prime UTR Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0107 (3227/29938,GnomAD)
A=0094 (2748/29118,TOPMED)
A=0128 (642/5008,1000G)
A=0135 (522/3854,ALSPAC)
A=0146 (542/3708,TWINSUK)
chr19:7114202 (GRCh38.p7) (19p13.2)
AD
GWASdb2
1   publication(s)
See rs on genome
42 Enhancers around
21 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 19NC_000019.10:g.7114202C>A
GRCh37.p13 chr 19NC_000019.9:g.7114213C>A
INSR RefSeqGeneNG_008852.2:g.184799G>T

Gene: INSR, insulin receptor(minus strand)

Molecule type Change Amino acid[Codon] SO Term
INSR transcript variant 1NM_000208.3:c.N/A3 Prime UTR Variant
INSR transcript variant 2NM_001079817.2:c.N/A3 Prime UTR Variant
INSR transcript variant X1XM_011527988.2:c.N/A3 Prime UTR Variant
INSR transcript variant X2XM_011527989.2:c.N/A3 Prime UTR Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.980A=0.020
1000GenomesAmericanSub694C=0.900A=0.100
1000GenomesEast AsianSub1008C=0.812A=0.188
1000GenomesEuropeSub1006C=0.839A=0.161
1000GenomesGlobalStudy-wide5008C=0.872A=0.128
1000GenomesSouth AsianSub978C=0.800A=0.200
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.865A=0.135
The Genome Aggregation DatabaseAfricanSub8722C=0.971A=0.029
The Genome Aggregation DatabaseAmericanSub836C=0.880A=0.120
The Genome Aggregation DatabaseEast AsianSub1610C=0.838A=0.162
The Genome Aggregation DatabaseEuropeSub18470C=0.860A=0.139
The Genome Aggregation DatabaseGlobalStudy-wide29938C=0.892A=0.107
The Genome Aggregation DatabaseOtherSub300C=0.850A=0.150
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.905A=0.094
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.854A=0.146
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
rs18641930.000227alcohol dependence21314694

eQTL of rs1864193 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 rs1864193 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 )
chr1971154157115577E0671202
chr1971156407115747E0671427
chr1971158437115974E0671630
chr1971153127115362E0681099
chr1971154157115577E0681202
chr1971156407115747E0681427
chr1971158437115974E0681630
chr1971000317100160E069-14053
chr1971154157115577E0691202
chr1971156407115747E0691427
chr1971158437115974E0691630
chr1970710607071165E070-43048
chr1970710607071165E071-43048
chr1970713257071375E071-42838
chr1971022087102258E071-11955
chr1971023167102799E071-11414
chr1971151657115209E071952
chr1971153127115362E0711099
chr1971154157115577E0711202
chr1971156407115747E0711427
chr1971158437115974E0711630
chr1971162917116405E0712078
chr1971164627116699E0712249
chr1971000317100160E072-14053
chr1971154157115577E0721202
chr1971156407115747E0721427
chr1971158437115974E0721630
chr1971162917116405E0722078
chr1971164627116699E0722249
chr1971153127115362E0731099
chr1971154157115577E0731202
chr1971156407115747E0731427
chr1971158437115974E0731630
chr1971162917116405E0732078
chr1971022087102258E074-11955
chr1971023167102799E074-11414
chr1971045567104655E074-9558
chr1971151657115209E074952
chr1971153127115362E0741099
chr1971158437115974E0741630
chr1971162917116405E0742078
chr1971164627116699E0742249








Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr1970689067070503E067-43710
chr1970985077099950E067-14263
chr1970689067070503E068-43710
chr1970985077099950E068-14263
chr1970689067070503E069-43710
chr1970981677098380E069-15833
chr1970985077099950E069-14263
chr1970689067070503E070-43710
chr1970985077099950E070-14263
chr1970689067070503E071-43710
chr1970985077099950E071-14263
chr1970689067070503E072-43710
chr1970985077099950E072-14263
chr1970689067070503E073-43710
chr1970985077099950E073-14263
chr1970689067070503E074-43710
chr1970985077099950E074-14263
chr1970689067070503E081-43710
chr1970985077099950E081-14263
chr1970689067070503E082-43710
chr1970985077099950E082-14263