rs17760784

Homo sapiens
G>C
BTRC : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0068 (2033/29912,GnomAD)
C=0077 (2258/29118,TOPMED)
C=0046 (228/5008,1000G)
C=0082 (315/3854,ALSPAC)
C=0077 (286/3708,TWINSUK)
chr10:101396659 (GRCh38.p7) (10q24.32)
ND
GWASdb2
1   publication(s)
See rs on genome
123 Enhancers around
17 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 10NC_000010.11:g.101396659G>C
GRCh37.p13 chr 10NC_000010.10:g.103156416G>C
BTRC RefSeqGeneNG_009234.1:g.47592G>C

Gene: BTRC, beta-transducin repeat containing E3 ubiquitin protein ligase(plus strand)

Molecule type Change Amino acid[Codon] SO Term
BTRC transcript variant 3NM_001256856.1:c.N/AIntron Variant
BTRC transcript variant 2NM_003939.4:c.N/AIntron Variant
BTRC transcript variant 1NM_033637.3:c.N/AIntron Variant
BTRC transcript variant X1XM_006718054.2:c.N/AIntron Variant
BTRC transcript variant X2XM_017016870.1:c.N/AIntron Variant
BTRC transcript variant X4XM_017016872.1:c.N/AIntron Variant
BTRC transcript variant X6XM_017016874.1:c.N/AIntron Variant
BTRC transcript variant X7XM_011540320.2:c.N/AGenic Upstream Transcript Variant
BTRC transcript variant X3XM_017016871.1:c.N/AGenic Upstream Transcript Variant
BTRC transcript variant X5XM_017016873.1:c.N/AGenic Upstream Transcript Variant
BTRC transcript variant X10XR_001747256.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.939C=0.061
1000GenomesAmericanSub694G=0.960C=0.040
1000GenomesEast AsianSub1008G=0.997C=0.003
1000GenomesEuropeSub1006G=0.924C=0.076
1000GenomesGlobalStudy-wide5008G=0.954C=0.046
1000GenomesSouth AsianSub978G=0.960C=0.040
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.918C=0.082
The Genome Aggregation DatabaseAfricanSub8708G=0.928C=0.072
The Genome Aggregation DatabaseAmericanSub836G=0.950C=0.050
The Genome Aggregation DatabaseEast AsianSub1616G=0.997C=0.003
The Genome Aggregation DatabaseEuropeSub18450G=0.926C=0.073
The Genome Aggregation DatabaseGlobalStudy-wide29912G=0.932C=0.068
The Genome Aggregation DatabaseOtherSub302G=0.970C=0.030
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.922C=0.077
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.923C=0.077
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
rs177607840.00041nicotine smoking19268276

eQTL of rs17760784 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 rs17760784 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 )
chr10103115232103115282E067-41134
chr10103115295103115339E067-41077
chr10103115382103115445E067-40971
chr10103154533103154807E067-1609
chr10103154847103155061E067-1355
chr10103156893103157321E067477
chr10103157350103157450E067934
chr10103157541103157624E0671125
chr10103157798103157895E0671382
chr10103198626103199051E06742210
chr10103199147103199281E06742731
chr10103115232103115282E068-41134
chr10103115295103115339E068-41077
chr10103115382103115445E068-40971
chr10103127272103128089E068-28327
chr10103145723103145902E068-10514
chr10103145980103146224E068-10192
chr10103156893103157321E068477
chr10103157350103157450E068934
chr10103157541103157624E0681125
chr10103157798103157895E0681382
chr10103198626103199051E06842210
chr10103199147103199281E06842731
chr10103199339103199389E06842923
chr10103115232103115282E069-41134
chr10103115295103115339E069-41077
chr10103115382103115445E069-40971
chr10103145980103146224E069-10192
chr10103146397103146500E069-9916
chr10103154533103154807E069-1609
chr10103154847103155061E069-1355
chr10103156893103157321E069477
chr10103157350103157450E069934
chr10103157541103157624E0691125
chr10103157798103157895E0691382
chr10103189398103189616E06932982
chr10103198626103199051E06942210
chr10103199147103199281E06942731
chr10103199339103199389E06942923
chr10103115232103115282E070-41134
chr10103115295103115339E070-41077
chr10103115382103115445E070-40971
chr10103156893103157321E070477
chr10103157350103157450E070934
chr10103157541103157624E0701125
chr10103157798103157895E0701382
chr10103198528103198578E07042112
chr10103198626103199051E07042210
chr10103199147103199281E07042731
chr10103199339103199389E07042923
chr10103201766103202259E07045350
chr10103203936103204085E07047520
chr10103204150103204255E07047734
chr10103204260103204479E07047844
chr10103205584103205655E07049168
chr10103205728103205791E07049312
chr10103205834103205900E07049418
chr10103205954103206146E07049538
chr10103115232103115282E071-41134
chr10103115295103115339E071-41077
chr10103115382103115445E071-40971
chr10103156893103157321E071477
chr10103157350103157450E071934
chr10103164793103164843E0718377
chr10103164893103164977E0718477
chr10103165570103165640E0719154
chr10103176366103176440E07119950
chr10103179208103179265E07122792
chr10103179385103179463E07122969
chr10103189398103189616E07132982
chr10103190122103190173E07133706
chr10103198626103199051E07142210
chr10103199147103199281E07142731
chr10103199339103199389E07142923
chr10103154533103154807E072-1609
chr10103154847103155061E072-1355
chr10103163447103163589E0727031
chr10103190122103190173E07233706
chr10103198626103199051E07242210
chr10103199147103199281E07242731
chr10103201766103202259E07245350
chr10103115232103115282E073-41134
chr10103115295103115339E073-41077
chr10103115382103115445E073-40971
chr10103145723103145902E073-10514
chr10103145980103146224E073-10192
chr10103198626103199051E07342210
chr10103199147103199281E07342731
chr10103179208103179265E07422792
chr10103179385103179463E07422969
chr10103189398103189616E07432982
chr10103190122103190173E07433706
chr10103198626103199051E07442210
chr10103199147103199281E07442731
chr10103199339103199389E07442923
chr10103156421103156481E0815
chr10103156628103156678E081212
chr10103156893103157321E081477
chr10103157350103157450E081934
chr10103157541103157624E0811125
chr10103157798103157895E0811382
chr10103164793103164843E0818377
chr10103164893103164977E0818477
chr10103189246103189305E08132830
chr10103189398103189616E08132982
chr10103190122103190173E08133706
chr10103201423103201607E08145007
chr10103201676103201734E08145260
chr10103201766103202259E08145350
chr10103156421103156481E0825
chr10103156628103156678E082212
chr10103157350103157450E082934
chr10103157541103157624E0821125
chr10103157798103157895E0821382
chr10103164793103164843E0828377
chr10103164893103164977E0828477
chr10103165570103165640E0829154
chr10103198626103199051E08242210
chr10103199147103199281E08242731
chr10103199339103199389E08242923
chr10103203936103204085E08247520
chr10103204150103204255E08247734
chr10103204260103204479E08247844










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr10103113133103115113E067-41303
chr10103113133103115113E068-41303
chr10103124559103124740E068-31676
chr10103113133103115113E069-41303
chr10103124559103124740E069-31676
chr10103113133103115113E070-41303
chr10103124559103124740E070-31676
chr10103113133103115113E071-41303
chr10103124559103124740E071-31676
chr10103113133103115113E072-41303
chr10103124559103124740E072-31676
chr10103113133103115113E073-41303
chr10103113133103115113E074-41303
chr10103113133103115113E081-41303
chr10103124559103124740E081-31676
chr10103113133103115113E082-41303
chr10103124559103124740E082-31676