Variant report

Variant	rs2823686
Chromosome Location	chr21:17623351-17623352
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 88 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs13433500	1.00[EUR][1000 genomes]
rs1389072	0.88[ASN][1000 genomes]
rs1389073	0.86[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs1492951	1.00[EUR][1000 genomes]
rs1492958	0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs1689046	1.00[EUR][1000 genomes]
rs16994578	1.00[EUR][1000 genomes]
rs16994668	1.00[EUR][1000 genomes]
rs16994829	1.00[EUR][1000 genomes]
rs16994966	1.00[EUR][1000 genomes]
rs1786832	1.00[EUR][1000 genomes]
rs1786833	1.00[EUR][1000 genomes]
rs1786836	0.84[CHB][hapmap];0.85[JPT][hapmap]
rs2131404	0.88[ASN][1000 genomes]
rs238946	0.86[CHB][hapmap];0.93[JPT][hapmap];0.94[ASN][1000 genomes]
rs239069	1.00[EUR][1000 genomes]
rs239077	1.00[EUR][1000 genomes]
rs2823640	1.00[EUR][1000 genomes]
rs2823645	1.00[EUR][1000 genomes]
rs2823649	1.00[EUR][1000 genomes]
rs2823655	1.00[EUR][1000 genomes]
rs2823656	1.00[EUR][1000 genomes]
rs2823663	1.00[EUR][1000 genomes]
rs2823664	1.00[EUR][1000 genomes]
rs2823665	1.00[EUR][1000 genomes]
rs2823666	1.00[EUR][1000 genomes]
rs2823667	1.00[EUR][1000 genomes]
rs2823668	1.00[EUR][1000 genomes]
rs2823670	1.00[EUR][1000 genomes]
rs2823673	1.00[EUR][1000 genomes]
rs2823680	1.00[EUR][1000 genomes]
rs2823681	1.00[EUR][1000 genomes]
rs2823684	0.84[CHB][hapmap];0.93[JPT][hapmap];0.80[ASN][1000 genomes]
rs2823688	0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs2823689	0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2823690	0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2823691	0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2823692	0.84[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs2823693	0.84[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2823694	0.92[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2823695	0.90[ASN][1000 genomes]
rs2823696	0.84[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2823697	0.92[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2823698	0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2823701	0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2823702	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2823703	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2823704	0.84[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2823706	0.93[CHB][hapmap];0.93[JPT][hapmap];0.88[YRI][hapmap];0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2823714	0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2823715	0.81[ASN][1000 genomes]
rs2823719	0.92[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2823723	0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2823724	0.93[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2823725	0.93[CHB][hapmap];1.00[JPT][hapmap]
rs2823726	0.93[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2823727	0.93[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2823728	0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs28379017	1.00[EUR][1000 genomes]
rs28401314	1.00[EUR][1000 genomes]
rs55909634	1.00[EUR][1000 genomes]
rs55941929	1.00[EUR][1000 genomes]
rs57097865	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58869062	1.00[EUR][1000 genomes]
rs59964313	1.00[EUR][1000 genomes]
rs60949090	1.00[EUR][1000 genomes]
rs60963357	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61333624	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61414956	1.00[EUR][1000 genomes]
rs6517694	1.00[EUR][1000 genomes]
rs7275189	1.00[EUR][1000 genomes]
rs7278407	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73357138	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73364854	1.00[EUR][1000 genomes]
rs73364899	1.00[EUR][1000 genomes]
rs73364901	1.00[EUR][1000 genomes]
rs73366394	1.00[EUR][1000 genomes]
rs73368220	1.00[EUR][1000 genomes]
rs73368227	1.00[EUR][1000 genomes]
rs8126809	0.92[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8128157	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8134616	1.00[EUR][1000 genomes]
rs9975784	1.00[EUR][1000 genomes]
rs9977577	1.00[EUR][1000 genomes]
rs9977984	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9981526	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432145	chr21:17559229-17628529	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv834051	chr21:17564843-17721764	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17619000-17631200	Weak transcription	Brain Hippocampus Middle	brain
2	chr21:17621800-17623400	Enhancers	Brain Substantia Nigra	brain
3	chr21:17622000-17626000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr21:17622400-17623400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr21:17622400-17623400	Enhancers	Hela-S3	cervix
6	chr21:17622800-17626200	Weak transcription	Ovary	ovary

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