rs10498267

Homo sapiens
T>C
CCNB1IP1 : 2KB Upstream Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0057 (1704/29866,GnomAD)
C=0082 (2389/29118,TOPMED)
C=0057 (283/5008,1000G)
C=0005 (19/3854,ALSPAC)
C=0005 (17/3708,TWINSUK)
chr14:20334156 (GRCh38.p7) (14q11.2)
AD
GWASdb2
1   publication(s)
See rs on genome
42 Enhancers around
34 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 14NC_000014.9:g.20334156T>C
GRCh37.p13 chr 14NC_000014.8:g.20802315T>C

Gene: CCNB1IP1, cyclin B1 interacting protein 1(minus strand): 2KB Upstream Variant

Molecule type Change Amino acid[Codon] SO Term
CCNB1IP1 transcript variant 1NM_021178.4:c.N/AUpstream Transcript Variant
CCNB1IP1 transcript variant 2NM_182849.2:c.N/AUpstream Transcript Variant
CCNB1IP1 transcript variant 4NM_182852.3:c.N/AUpstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.805C=0.195
1000GenomesAmericanSub694T=0.980C=0.020
1000GenomesEast AsianSub1008T=1.000C=0.000
1000GenomesEuropeSub1006T=0.993C=0.007
1000GenomesGlobalStudy-wide5008T=0.943C=0.057
1000GenomesSouth AsianSub978T=0.990C=0.010
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.995C=0.005
The Genome Aggregation DatabaseAfricanSub8668T=0.813C=0.187
The Genome Aggregation DatabaseAmericanSub832T=0.990C=0.010
The Genome Aggregation DatabaseEast AsianSub1620T=0.999C=0.001
The Genome Aggregation DatabaseEuropeSub18444T=0.996C=0.003
The Genome Aggregation DatabaseGlobalStudy-wide29866T=0.942C=0.057
The Genome Aggregation DatabaseOtherSub302T=0.980C=0.020
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.918C=0.082
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.995C=0.005
PMID Title Author Journal

P-Value

SNP ID p-value Traits Study
rs104982671.31E-11alcohol consumptionpha001402

eQTL of rs10498267 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 rs10498267 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 )
chr142077224620772296E067-30019
chr142077246220772512E067-29803
chr142079529620796061E067-6254
chr142079612620796197E067-6118
chr142077246220772512E068-29803
chr142077283920772879E068-29436
chr142081292320812967E06810608
chr142081306520813247E06810750
chr142081339420813493E06811079
chr142077224620772296E069-30019
chr142077246220772512E069-29803
chr142077283920772879E069-29436
chr142079529620796061E069-6254
chr142079612620796197E069-6118
chr142081292320812967E06910608
chr142077181120771875E070-30440
chr142077224620772296E070-30019
chr142077246220772512E070-29803
chr142077283920772879E070-29436
chr142081306520813247E07010750
chr142081339420813493E07011079
chr142081351020813602E07011195
chr142077181120771875E071-30440
chr142077224620772296E071-30019
chr142077246220772512E071-29803
chr142077283920772879E071-29436
chr142081292320812967E07110608
chr142077246220772512E072-29803
chr142077283920772879E072-29436
chr142077168520771758E073-30557
chr142077181120771875E073-30440
chr142077283920772879E074-29436
chr142077181120771875E081-30440
chr142077224620772296E081-30019
chr142077246220772512E081-29803
chr142077283920772879E081-29436
chr142081292320812967E08110608
chr142081306520813247E08110750
chr142077168520771758E082-30557
chr142077181120771875E082-30440
chr142077224620772296E082-30019
chr142077283920772879E082-29436










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr142077342820774514E067-27801
chr142080048120802047E067-268
chr142081048220812764E0678167
chr142077342820774514E068-27801
chr142080048120802047E068-268
chr142080994820810426E0687633
chr142081048220812764E0688167
chr142077342820774514E069-27801
chr142080048120802047E069-268
chr142081048220812764E0698167
chr142077342820774514E070-27801
chr142080048120802047E070-268
chr142080994820810426E0707633
chr142081048220812764E0708167
chr142077342820774514E071-27801
chr142080048120802047E071-268
chr142080994820810426E0717633
chr142081048220812764E0718167
chr142077342820774514E072-27801
chr142080048120802047E072-268
chr142080994820810426E0727633
chr142081048220812764E0728167
chr142077342820774514E073-27801
chr142080048120802047E073-268
chr142081048220812764E0738167
chr142077342820774514E074-27801
chr142080048120802047E074-268
chr142081048220812764E0748167
chr142080048120802047E081-268
chr142081048220812764E0818167
chr142077342820774514E082-27801
chr142080048120802047E082-268
chr142080994820810426E0827633
chr142081048220812764E0828167