Variant report

Variant	rs7002593
Chromosome Location	chr8:39082736-39082737
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10087956	0.87[ASW][hapmap];0.82[AMR][1000 genomes]
rs10112636	0.82[AMR][1000 genomes]
rs11992272	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11994110	1.00[ASW][hapmap];0.82[LWK][hapmap];0.86[MKK][hapmap];0.81[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs12114061	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34023190	0.82[AMR][1000 genomes]
rs4352814	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56413946	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs6981991	0.82[AMR][1000 genomes]
rs6990092	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7008316	0.82[AMR][1000 genomes]
rs7011419	0.82[AMR][1000 genomes]
rs7015389	0.82[AMR][1000 genomes]
rs73676819	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs73676820	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs7821206	0.82[AMR][1000 genomes]
rs7821373	1.00[ASW][hapmap];0.95[LWK][hapmap];0.93[MKK][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7836976	0.87[ASW][hapmap];0.82[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015907	chr8:38967169-39718559	Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv539550	chr8:38967169-39718559	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv1027443	chr8:38993423-39181079	Strong transcription ZNF genes & repeats Enhancers Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv539551	chr8:38993423-39181079	Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv428198	chr8:39069309-39405724	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:39076200-39082800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:39076200-39097200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:39081200-39083800	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr8:39081400-39084200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr8:39081600-39084000	Weak transcription	NHLF	lung
6	chr8:39082400-39082800	ZNF genes & repeats	Aorta	Aorta
7	chr8:39082400-39083000	Strong transcription	Fetal Intestine Small	intestine
8	chr8:39082600-39083000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr8:39082600-39083200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr8:39082600-39083200	Strong transcription	Ovary	ovary

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dbSNP/dbVar ID: rs12345 /nsv7879
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