rs4714899

Homo sapiens
G>A
CLIC5 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0398 (11918/29922,GnomAD)
A=0400 (11651/29118,TOPMED)
A=0337 (1686/5008,1000G)
A=0291 (1121/3854,ALSPAC)
A=0292 (1082/3708,TWINSUK)
chr6:45979730 (GRCh38.p7) (6p21.1)
ND
GWASdb2
1   publication(s)
See rs on genome
8 Enhancers around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 6NC_000006.12:g.45979730G>A
GRCh37.p13 chr 6NC_000006.11:g.45947467G>A
CLIC5 RefSeqGeneNG_031965.1:g.105619C>T

Gene: CLIC5, chloride intracellular channel 5(minus strand)

Molecule type Change Amino acid[Codon] SO Term
CLIC5 transcript variant 1NM_001114086.1:c.N/AIntron Variant
CLIC5 transcript variant 3NM_001256023.1:c.N/AIntron Variant
CLIC5 transcript variant 2NM_016929.4:c.N/AIntron Variant
CLIC5 transcript variant 4NR_045672.1:n.N/AGenic Upstream Transcript Variant
CLIC5 transcript variant 5NR_045673.1:n.N/AGenic Upstream Transcript Variant
CLIC5 transcript variant 6NR_045674.1:n.N/AGenic Upstream Transcript Variant
CLIC5 transcript variant X3XM_011514692.2:c.N/AIntron Variant
CLIC5 transcript variant X4XM_011514694.2:c.N/AIntron Variant
CLIC5 transcript variant X1XM_017010953.1:c.N/AIntron Variant
CLIC5 transcript variant X2XR_926258.2:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.384A=0.616
1000GenomesAmericanSub694G=0.640A=0.360
1000GenomesEast AsianSub1008G=0.898A=0.102
1000GenomesEuropeSub1006G=0.682A=0.318
1000GenomesGlobalStudy-wide5008G=0.663A=0.337
1000GenomesSouth AsianSub978G=0.800A=0.200
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.709A=0.291
The Genome Aggregation DatabaseAfricanSub8706G=0.433A=0.567
The Genome Aggregation DatabaseAmericanSub836G=0.560A=0.440
The Genome Aggregation DatabaseEast AsianSub1614G=0.924A=0.076
The Genome Aggregation DatabaseEuropeSub18466G=0.654A=0.346
The Genome Aggregation DatabaseGlobalStudy-wide29922G=0.601A=0.398
The Genome Aggregation DatabaseOtherSub300G=0.670A=0.330
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.599A=0.400
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.708A=0.292
PMID Title Author Journal
20158304A genomewide association study of nicotine and alcohol dependence in Australian and Dutch populations.Lind PATwin Res Hum Genet

P-Value

SNP ID p-value Traits Study
rs47148996.54E-05alcohol and nictotine co-dependence20158304

eQTL of rs4714899 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 rs4714899 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 )
chr64589809145898599E070-48868
chr64591916145919295E070-28172
chr64591938145919820E070-27647
chr64589809145898599E072-48868
chr64591916145919295E072-28172
chr64591938145919820E072-27647
chr64589809145898599E074-48868
chr64589860145898734E074-48733



Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr64598279045983673E06735323
chr64598372445983831E06736257
chr64598178845982743E06834321
chr64598279045983673E06835323
chr64598372445983831E06836257
chr64598279045983673E06935323
chr64598372445983831E06936257
chr64598372445983831E07136257
chr64598397445984136E07136507
chr64598279045983673E07235323
chr64598279045983673E07335323
chr64598372445983831E07336257
chr64598279045983673E07435323