Variant report

Variant	rs2823723
Chromosome Location	chr21:17636384-17636385
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 90 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs13433500	1.00[EUR][1000 genomes]
rs1389072	0.88[ASN][1000 genomes]
rs1389073	0.84[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs1492951	1.00[EUR][1000 genomes]
rs1492958	0.92[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.98[ASN][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	0.82[CHB][hapmap];0.85[JPT][hapmap]
rs2131404	0.88[ASN][1000 genomes]
rs238946	0.93[JPT][hapmap]
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]
rs2823676	0.82[CHD][hapmap]
rs2823680	1.00[EUR][1000 genomes]
rs2823681	1.00[EUR][1000 genomes]
rs2823684	0.82[CHB][hapmap];0.93[JPT][hapmap]
rs2823686	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]
rs2823688	0.91[CHB][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.96[MKK][hapmap];1.00[YRI][hapmap]
rs2823689	0.90[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2823690	0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2823691	0.91[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2823692	0.82[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2823693	0.82[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2823694	0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2823695	0.86[ASN][1000 genomes]
rs2823696	0.82[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2823697	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2823698	0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2823701	0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2823702	0.91[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2823703	0.82[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2823704	0.84[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2823706	0.92[CHB][hapmap];0.93[JPT][hapmap];0.92[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2823714	0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2823715	0.95[ASN][1000 genomes]
rs2823719	0.81[ASW][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2823724	0.92[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2823725	0.92[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2823726	0.92[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2823727	0.92[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2823728	0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.98[ASN][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	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58869062	1.00[EUR][1000 genomes]
rs59964313	1.00[EUR][1000 genomes]
rs60949090	1.00[EUR][1000 genomes]
rs60963357	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61333624	0.88[AFR][1000 genomes];1.00[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	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73357138	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][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	0.91[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8128157	1.00[EUR][1000 genomes];0.81[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];0.81[ASN][1000 genomes]
rs9981526	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv1064857	chr21:17628760-18533131	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	345 gene(s)	inside rSNPs	diseases
3	nsv544382	chr21:17628760-18533131	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	345 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17626800-17636600	Weak transcription	Ovary	ovary
2	chr21:17631600-17638400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr21:17634800-17667000	Weak transcription	Hela-S3	cervix
4	chr21:17635600-17636400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr21:17636200-17636400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr21:17636200-17636400	Enhancers	Primary hematopoietic stem cells	blood
7	chr21:17636200-17636400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr21:17636200-17636600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr21:17636200-17637200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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