rs1545837

Homo sapiens
T>C
CCAR2 : Non Coding Transcript Variant
BIN3 : 500B Downstream Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0281 (8428/29916,GnomAD)
C=0243 (7088/29118,TOPMED)
C=0273 (1366/5008,1000G)
C=0366 (1412/3854,ALSPAC)
C=0355 (1315/3708,TWINSUK)
chr8:22620294 (GRCh38.p7) (8p21.3)
AD
GWASdb2
1   publication(s)
See rs on genome
200 Enhancers around
31 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 8NC_000008.11:g.22620294T>C
GRCh37.p13 chr 8NC_000008.10:g.22477807T>C

Gene: CCAR2, cell cycle and apoptosis regulator 2(plus strand)

Molecule type Change Amino acid[Codon] SO Term
CCAR2 transcript variant 1NM_021174.5:c.N/A3 Prime UTR Variant
CCAR2 transcript variant 2NR_033902.1:n.363...NR_033902.1:n.3633T>CT>CNon Coding Transcript Variant
CCAR2 transcript variant X1XM_011544603.1:c.N/A3 Prime UTR Variant
CCAR2 transcript variant X3XM_011544604.1:c.N/A3 Prime UTR Variant
CCAR2 transcript variant X2XM_017013717.1:c.N/A3 Prime UTR Variant

Gene: BIN3, bridging integrator 3(minus strand): 500B Downstream Variant

Molecule type Change Amino acid[Codon] SO Term
BIN3 transcriptNM_018688.4:c.N/ADownstream Transcript Variant
BIN3 transcript variant X2XM_005273573.3:c.N/ADownstream Transcript Variant
BIN3 transcript variant X3XM_011544586.2:c.N/ADownstream Transcript Variant
BIN3 transcript variant X4XM_011544587.1:c.N/AN/A
BIN3 transcript variant X1XR_949444.2:n.N/ADownstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.894C=0.106
1000GenomesAmericanSub694T=0.680C=0.320
1000GenomesEast AsianSub1008T=0.819C=0.181
1000GenomesEuropeSub1006T=0.628C=0.372
1000GenomesGlobalStudy-wide5008T=0.727C=0.273
1000GenomesSouth AsianSub978T=0.540C=0.460
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.634C=0.366
The Genome Aggregation DatabaseAfricanSub8720T=0.856C=0.144
The Genome Aggregation DatabaseAmericanSub834T=0.750C=0.250
The Genome Aggregation DatabaseEast AsianSub1618T=0.834C=0.166
The Genome Aggregation DatabaseEuropeSub18444T=0.643C=0.357
The Genome Aggregation DatabaseGlobalStudy-wide29916T=0.718C=0.281
The Genome Aggregation DatabaseOtherSub300T=0.620C=0.380
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.756C=0.243
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.645C=0.355
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
rs15458371E-05alcohol consumption (maxi-drinks)24277619

eQTL of rs1545837 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr8:22477807PDLIM2ENSG00000120913.19T>C4.5578e-542015Frontal_Cortex_BA9
Chr8:22477807PDLIM2ENSG00000120913.19T>C5.6233e-842015Cortex
Chr8:22477807BIN3ENSG00000147439.7T>C9.4864e-6-48854Cerebellar_Hemisphere
Chr8:22477807BIN3ENSG00000147439.7T>C1.5856e-6-48854Caudate_basal_ganglia
Chr8:22477807BIN3ENSG00000147439.7T>C4.5281e-4-48854Brain_Spinal_cord_cervical
Chr8:22477807C8orf58ENSG00000241852.5T>C1.0012e-620693Hippocampus
Chr8:22477807BIN3ENSG00000147439.7T>C3.9336e-4-48854Putamen_basal_ganglia
Chr8:22477807C8orf58ENSG00000241852.5T>C6.3083e-720693Anterior_cingulate_cortex
Chr8:22477807C8orf58ENSG00000241852.5T>C3.9268e-420693Nucleus_accumbens_basal_ganglia
Chr8:22477807BIN3ENSG00000147439.7T>C1.3886e-4-48854Nucleus_accumbens_basal_ganglia

meQTL of rs1545837 in Fetal Brain

Probe ID Position Gene beta p-value
cg03733263chr8:22462867KIAA19670.0684683996610818.4859e-24

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 )
chr82243139122432950E067-44857
chr82243297522433066E067-44741
chr82243313822433554E067-44253
chr82243359422433646E067-44161
chr82244579522445878E067-31929
chr82244590222445955E067-31852
chr82244785822448139E067-29668
chr82244866922448861E067-28946
chr82245213322453428E067-24379
chr82246342222463733E067-14074
chr82246378422464187E067-13620
chr82246426122464355E067-13452
chr82246437422464500E067-13307
chr82246451922464640E067-13167
chr82248506222485223E0677255
chr82248529822485394E0677491
chr82248544322485585E0677636
chr82249949822500371E06721691
chr82250037222500950E06722565
chr82250440822504604E06726601
chr82251491322515029E06737106
chr82251511422517443E06737307
chr82252414122525113E06746334
chr82252729122527348E06749484
chr82252738622527536E06749579
chr82243139122432950E068-44857
chr82243297522433066E068-44741
chr82243313822433554E068-44253
chr82243359422433646E068-44161
chr82244785822448139E068-29668
chr82245213322453428E068-24379
chr82246378422464187E068-13620
chr82248506222485223E0687255
chr82248529822485394E0687491
chr82248544322485585E0687636
chr82249798022499393E06820173
chr82249949822500371E06821691
chr82250037222500950E06822565
chr82251511422517443E06837307
chr82252355422523694E06845747
chr82252394322524021E06846136
chr82252414122525113E06846334
chr82242925122429307E069-48500
chr82242935922429569E069-48238
chr82242958322429711E069-48096
chr82243139122432950E069-44857
chr82243297522433066E069-44741
chr82243313822433554E069-44253
chr82243359422433646E069-44161
chr82244579522445878E069-31929
chr82244590222445955E069-31852
chr82244785822448139E069-29668
chr82245213322453428E069-24379
chr82246378422464187E069-13620
chr82246426122464355E069-13452
chr82246437422464500E069-13307
chr82246451922464640E069-13167
chr82246475722464891E069-12916
chr82248642522487235E0698618
chr82249798022499393E06920173
chr82249949822500371E06921691
chr82251431522514777E06936508
chr82251491322515029E06937106
chr82251511422517443E06937307
chr82252355422523694E06945747
chr82252394322524021E06946136
chr82252414122525113E06946334
chr82245213322453428E070-24379
chr82245861522459192E070-18615
chr82246426122464355E070-13452
chr82246437422464500E070-13307
chr82246451922464640E070-13167
chr82246475722464891E070-12916
chr82248642522487235E0708618
chr82248730922487439E0709502
chr82248762822487691E0709821
chr82248774822487909E0709941
chr82252394322524021E07046136
chr82252414122525113E07046334
chr82242958322429711E071-48096
chr82242974422430805E071-47002
chr82243139122432950E071-44857
chr82243297522433066E071-44741
chr82243313822433554E071-44253
chr82244579522445878E071-31929
chr82244590222445955E071-31852
chr82244785822448139E071-29668
chr82245861522459192E071-18615
chr82246342222463733E071-14074
chr82246378422464187E071-13620
chr82246426122464355E071-13452
chr82246437422464500E071-13307
chr82246451922464640E071-13167
chr82248356322484731E0715756
chr82248476522484961E0716958
chr82248506222485223E0717255
chr82248529822485394E0717491
chr82248544322485585E0717636
chr82249798022499393E07120173
chr82249949822500371E07121691
chr82250037222500950E07122565
chr82250200822502381E07124201
chr82250245422502572E07124647
chr82251491322515029E07137106
chr82251511422517443E07137307
chr82252245222522812E07144645
chr82252281622523240E07145009
chr82252333522523467E07145528
chr82252355422523694E07145747
chr82252394322524021E07146136
chr82252414122525113E07146334
chr82242935922429569E072-48238
chr82242958322429711E072-48096
chr82243139122432950E072-44857
chr82243297522433066E072-44741
chr82243313822433554E072-44253
chr82243359422433646E072-44161
chr82244579522445878E072-31929
chr82244590222445955E072-31852
chr82245213322453428E072-24379
chr82246342222463733E072-14074
chr82246378422464187E072-13620
chr82246426122464355E072-13452
chr82246437422464500E072-13307
chr82248642522487235E0728618
chr82249949822500371E07221691
chr82251431522514777E07236508
chr82251491322515029E07237106
chr82251511422517443E07237307
chr82252394322524021E07246136
chr82252414122525113E07246334
chr82242925122429307E073-48500
chr82242935922429569E073-48238
chr82242958322429711E073-48096
chr82242974422430805E073-47002
chr82243139122432950E073-44857
chr82243297522433066E073-44741
chr82243313822433554E073-44253
chr82244579522445878E073-31929
chr82244590222445955E073-31852
chr82244785822448139E073-29668
chr82244866922448861E073-28946
chr82245213322453428E073-24379
chr82245861522459192E073-18615
chr82246378422464187E073-13620
chr82246426122464355E073-13452
chr82246437422464500E073-13307
chr82246451922464640E073-13167
chr82248476522484961E0736958
chr82248506222485223E0737255
chr82248529822485394E0737491
chr82248544322485585E0737636
chr82248566822486239E0737861
chr82248630422486365E0738497
chr82248966922489806E07311862
chr82248984922489989E07312042
chr82249454822494627E07316741
chr82249470522494859E07316898
chr82249499722495047E07317190
chr82249949822500371E07321691
chr82250037222500950E07322565
chr82251491322515029E07337106
chr82251511422517443E07337307
chr82252394322524021E07346136
chr82252414122525113E07346334
chr82252729122527348E07349484
chr82252738622527536E07349579
chr82252759922527711E07349792
chr82242925122429307E074-48500
chr82242935922429569E074-48238
chr82242958322429711E074-48096
chr82243297522433066E074-44741
chr82243313822433554E074-44253
chr82243359422433646E074-44161
chr82245861522459192E074-18615
chr82246342222463733E074-14074
chr82246378422464187E074-13620
chr82246426122464355E074-13452
chr82246437422464500E074-13307
chr82249949822500371E07421691
chr82250037222500950E07422565
chr82250200822502381E07424201
chr82251431522514777E07436508
chr82251491322515029E07437106
chr82251511422517443E07437307
chr82252281622523240E07445009
chr82252333522523467E07445528
chr82252355422523694E07445747
chr82252394322524021E07446136
chr82252414122525113E07446334
chr82243139122432950E081-44857
chr82245861522459192E081-18615
chr82246342222463733E081-14074
chr82246378422464187E081-13620
chr82248642522487235E0818618
chr82249798022499393E08120173
chr82246426122464355E082-13452
chr82246437422464500E082-13307
chr82246451922464640E082-13167
chr82252140022521440E08243593










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr82244612122447596E067-30211
chr82246088622463144E067-14663
chr82252579822527221E06747991
chr82243540722439106E068-38701
chr82244612122447596E068-30211
chr82246088622463144E068-14663
chr82252579822527221E06847991
chr82244612122447596E069-30211
chr82246088622463144E069-14663
chr82252579822527221E06947991
chr82244612122447596E070-30211
chr82246088622463144E070-14663
chr82252579822527221E07047991
chr82243540722439106E071-38701
chr82244612122447596E071-30211
chr82246088622463144E071-14663
chr82252579822527221E07147991
chr82243540722439106E072-38701
chr82244612122447596E072-30211
chr82246088622463144E072-14663
chr82252579822527221E07247991
chr82244612122447596E073-30211
chr82246088622463144E073-14663
chr82252579822527221E07347991
chr82244612122447596E074-30211
chr82246088622463144E074-14663
chr82252579822527221E07447991
chr82252579822527221E08147991
chr82244612122447596E082-30211
chr82246088622463144E082-14663
chr82252579822527221E08247991