rs704034

Homo sapiens
A>G
CARD6 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0133 (3988/29968,GnomAD)
G=0109 (3200/29118,TOPMED)
G=0071 (357/5008,1000G)
G=0165 (634/3854,ALSPAC)
G=0168 (624/3708,TWINSUK)
chr5:40842014 (GRCh38.p7) (5p13.1)
ND
GWASdb2
1   publication(s)
See rs on genome
17 Enhancers around
34 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 5NC_000005.10:g.40842014A>G
GRCh37.p13 chr 5NC_000005.9:g.40842116A>G

Gene: CARD6, caspase recruitment domain family member 6(plus strand)

Molecule type Change Amino acid[Codon] SO Term
CARD6 transcriptNM_032587.3:c.N/AIntron Variant
CARD6 transcript variant X1XM_017009989.1:c.N/AIntron Variant
CARD6 transcript variant X2XM_017009990.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.939G=0.061
1000GenomesAmericanSub694A=0.930G=0.070
1000GenomesEast AsianSub1008A=0.956G=0.044
1000GenomesEuropeSub1006A=0.845G=0.155
1000GenomesGlobalStudy-wide5008A=0.929G=0.071
1000GenomesSouth AsianSub978A=0.970G=0.030
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.835G=0.165
The Genome Aggregation DatabaseAfricanSub8724A=0.922G=0.078
The Genome Aggregation DatabaseAmericanSub838A=0.920G=0.080
The Genome Aggregation DatabaseEast AsianSub1620A=0.983G=0.017
The Genome Aggregation DatabaseEuropeSub18484A=0.827G=0.172
The Genome Aggregation DatabaseGlobalStudy-wide29968A=0.866G=0.133
The Genome Aggregation DatabaseOtherSub302A=0.910G=0.090
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.890G=0.109
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.832G=0.168
PMID Title Author Journal
17158188Novel genes identified in a high-density genome wide association study for nicotine dependence.Bierut LJHum Mol Genet

P-Value

SNP ID p-value Traits Study
rs7040340.000257nicotine dependence17158188

eQTL of rs704034 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 rs704034 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 )
chr54079955440799643E067-42473
chr54080015140800246E067-41870
chr54083309640833212E067-8904
chr54083356840833758E067-8358
chr54079955440799643E069-42473
chr54083356840833758E069-8358
chr54079955440799643E070-42473
chr54083356840833758E070-8358
chr54083309640833212E071-8904
chr54083356840833758E071-8358
chr54087938340879429E07237267
chr54087946640879773E07237350
chr54079955440799643E073-42473
chr54079955440799643E074-42473
chr54083356840833758E074-8358
chr54083356840833758E081-8358
chr54079955440799643E082-42473









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr54079711940799252E067-42864
chr54083424240836560E067-5556
chr54079711940799252E068-42864
chr54083424240836560E068-5556
chr54084117040841866E068-250
chr54084190040842316E0680
chr54079711940799252E069-42864
chr54083401940834074E069-8042
chr54083424240836560E069-5556
chr54084117040841866E069-250
chr54084190040842316E0690
chr54079711940799252E070-42864
chr54083424240836560E070-5556
chr54079711940799252E071-42864
chr54083424240836560E071-5556
chr54084117040841866E071-250
chr54084190040842316E0710
chr54079711940799252E072-42864
chr54083401940834074E072-8042
chr54083424240836560E072-5556
chr54084117040841866E072-250
chr54079711940799252E073-42864
chr54083424240836560E073-5556
chr54084117040841866E073-250
chr54084190040842316E0730
chr54079711940799252E074-42864
chr54083424240836560E074-5556
chr54084117040841866E074-250
chr54084190040842316E0740
chr54085426040854328E07412144
chr54079711940799252E081-42864
chr54083401940834074E081-8042
chr54079711940799252E082-42864
chr54083424240836560E082-5556