Variant report

Variant	rs7000417
Chromosome Location	chr8:39084888-39084889
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs4288342	1.00[AMR][1000 genomes]
rs4382439	1.00[AMR][1000 genomes]
rs4404879	1.00[AMR][1000 genomes]
rs4476978	1.00[AMR][1000 genomes]
rs59851050	1.00[AMR][1000 genomes]
rs60402210	1.00[AMR][1000 genomes]
rs6983342	1.00[AMR][1000 genomes]
rs6984156	1.00[AMR][1000 genomes]
rs6987728	1.00[AMR][1000 genomes]
rs6999436	1.00[AMR][1000 genomes]
rs7001987	1.00[AMR][1000 genomes]
rs7003066	1.00[AMR][1000 genomes]
rs7013465	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7816599	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7817462	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7822099	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7831826	1.00[AMR][1000 genomes]
rs7833198	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7840897	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7844092	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7844395	0.97[AFR][1000 genomes];1.00[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:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:39076200-39097200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:39083200-39085800	Weak transcription	Ovary	ovary
3	chr8:39083200-39097800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr8:39084800-39085200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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