Variant report

Variant	rs2122991
Chromosome Location	chr8:39649631-39649632
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10096592	1.00[EUR][1000 genomes]
rs10096983	1.00[EUR][1000 genomes]
rs11989147	1.00[EUR][1000 genomes]
rs11990694	1.00[EUR][1000 genomes]
rs11996873	1.00[EUR][1000 genomes]
rs1376728	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1451737	1.00[EUR][1000 genomes]
rs1451744	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1901387	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs202002	0.93[YRI][hapmap];0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs202005	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs202008	0.88[AFR][1000 genomes]
rs202009	0.88[AFR][1000 genomes]
rs202010	0.81[AFR][1000 genomes]
rs202015	0.88[AFR][1000 genomes]
rs3974327	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs453419	0.81[YRI][hapmap];0.85[AFR][1000 genomes]
rs57403655	1.00[EUR][1000 genomes]
rs6983759	1.00[EUR][1000 genomes]
rs6987500	1.00[EUR][1000 genomes]
rs7005051	1.00[EUR][1000 genomes]
rs7836547	1.00[EUR][1000 genomes]
rs7837269	1.00[EUR][1000 genomes]
rs896472	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv890833	chr8:39405337-39664696	Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv890836	chr8:39480366-39650940	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv890839	chr8:39553261-39664696	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv890840	chr8:39597328-39664696	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:39647800-39659200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr8:39649400-39650400	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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