rs2852356

Homo sapiens
G>A
CCBE1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G==0162 (4796/29494,GnomAD)
G==0198 (5790/29118,TOPMED)
G==0204 (1020/5008,1000G)
G==0106 (408/3854,ALSPAC)
G==0102 (380/3708,TWINSUK)
chr18:59692901 (GRCh38.p7) (18q21.32)
ND
GWASdb2
1   publication(s)
See rs on genome
52 Enhancers around
6 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 18NC_000018.10:g.59692901G>A
GRCh37.p13 chr 18NC_000018.9:g.57360133G>A
CCBE1 RefSeqGeneNG_016990.1:g.9512C>T

Gene: CCBE1, collagen and calcium binding EGF domains 1(minus strand)

Molecule type Change Amino acid[Codon] SO Term
CCBE1 transcriptNM_133459.3:c.N/AIntron Variant
CCBE1 transcript variant X1XM_017025556.1:c.N/AIntron Variant
CCBE1 transcript variant X2XM_017025557.1:c.N/AIntron Variant
CCBE1 transcript variant X5XM_017025558.1:c.N/AIntron Variant
CCBE1 transcript variant X4XR_001753142.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.351A=0.649
1000GenomesAmericanSub694G=0.080A=0.920
1000GenomesEast AsianSub1008G=0.154A=0.846
1000GenomesEuropeSub1006G=0.113A=0.887
1000GenomesGlobalStudy-wide5008G=0.204A=0.796
1000GenomesSouth AsianSub978G=0.240A=0.760
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.106A=0.894
The Genome Aggregation DatabaseAfricanSub8524G=0.299A=0.701
The Genome Aggregation DatabaseAmericanSub820G=0.070A=0.930
The Genome Aggregation DatabaseEast AsianSub1582G=0.142A=0.858
The Genome Aggregation DatabaseEuropeSub18268G=0.104A=0.895
The Genome Aggregation DatabaseGlobalStudy-wide29494G=0.162A=0.837
The Genome Aggregation DatabaseOtherSub300G=0.190A=0.810
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.198A=0.801
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.102A=0.898
PMID Title Author Journal
19268276Genome-wide association study of smoking initiation and current smoking.Vink JMAm J Hum Genet

P-Value

SNP ID p-value Traits Study
rs28523560.000407nicotine smoking19268276

eQTL of rs2852356 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 rs2852356 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 )
chr185733877457338965E070-21168
chr185733905257339190E070-20943
chr185733952857340005E070-20128
chr185732655457326664E073-33469
chr185732618957326497E081-33636
chr185732655457326664E081-33469
chr185732674757328983E081-31150
chr185733905257339190E081-20943
chr185733952857340005E081-20128
chr185734006157340122E081-20011
chr185734699357347043E081-13090
chr185734759257347636E081-12497
chr185734808957348154E081-11979
chr185734833257348451E081-11682
chr185734867857349258E081-10875
chr185734971457349884E081-10249
chr185735039157350466E081-9667
chr185735055957350646E081-9487
chr185735098957351145E081-8988
chr185735130957351426E081-8707
chr185735200557352289E081-7844
chr185735238557352629E081-7504
chr185735272857353230E081-6903
chr185735359057353826E081-6307
chr185735418257354232E081-5901
chr185735437957354429E081-5704
chr185735638757356572E081-3561
chr185735659757356647E081-3486
chr185735688857358626E081-1507
chr185736027457360342E081141
chr185736044057360510E081307
chr185736555357365802E0815420
chr185736595757366041E0815824
chr185736626157366332E0816128
chr185736638057366572E0816247
chr185736661957366684E0816486
chr185736676657367087E0816633
chr185736711057367588E0816977
chr185736760157367862E0817468
chr185736788457368189E0817751
chr185736836857368851E0818235
chr185738185857382576E08121725
chr185738264157383689E08122508
chr185738647057386691E08126337
chr185733877457338965E082-21168
chr185733905257339190E082-20943
chr185733952857340005E082-20128
chr185734006157340122E082-20011
chr185735200557352289E082-7844
chr185735238557352629E082-7504
chr185735272857353230E082-6903
chr185736760157367862E0827468




Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr185736332657365550E0673193
chr185736332657365550E0693193
chr185736332657365550E0723193
chr185736332657365550E0743193
chr185736332657365550E0813193
chr185736332657365550E0823193