Variant report

Variant	rs2823680
Chromosome Location	chr21:17613715-17613716
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs13433500	1.00[EUR][1000 genomes]
rs1492951	1.00[EUR][1000 genomes]
rs1492958	1.00[EUR][1000 genomes]
rs1689046	1.00[EUR][1000 genomes]
rs16993170	1.00[EUR][1000 genomes]
rs16994578	1.00[EUR][1000 genomes]
rs16994668	1.00[EUR][1000 genomes]
rs16994829	0.87[YRI][hapmap];0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16994966	1.00[EUR][1000 genomes]
rs1786832	1.00[EUR][1000 genomes]
rs1786833	1.00[EUR][1000 genomes]
rs239069	1.00[EUR][1000 genomes]
rs239077	1.00[EUR][1000 genomes]
rs2823640	1.00[EUR][1000 genomes]
rs2823645	0.84[YRI][hapmap];1.00[EUR][1000 genomes]
rs2823649	0.84[YRI][hapmap];1.00[EUR][1000 genomes]
rs2823655	0.84[YRI][hapmap];1.00[EUR][1000 genomes]
rs2823656	0.82[YRI][hapmap];1.00[EUR][1000 genomes]
rs2823658	0.81[YRI][hapmap]
rs2823663	0.86[YRI][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2823664	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2823665	0.87[YRI][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2823666	0.87[YRI][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2823667	0.85[YRI][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2823668	1.00[EUR][1000 genomes]
rs2823670	0.86[YRI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2823673	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2823681	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2823686	1.00[EUR][1000 genomes]
rs2823689	1.00[EUR][1000 genomes]
rs2823690	1.00[EUR][1000 genomes]
rs2823691	1.00[EUR][1000 genomes]
rs2823693	1.00[EUR][1000 genomes]
rs2823694	1.00[EUR][1000 genomes]
rs2823698	1.00[EUR][1000 genomes]
rs2823701	1.00[EUR][1000 genomes]
rs2823706	1.00[EUR][1000 genomes]
rs2823714	1.00[EUR][1000 genomes]
rs2823719	1.00[EUR][1000 genomes]
rs2823723	1.00[EUR][1000 genomes]
rs2823724	1.00[EUR][1000 genomes]
rs2823726	1.00[EUR][1000 genomes]
rs2823727	1.00[EUR][1000 genomes]
rs2823728	1.00[EUR][1000 genomes]
rs28379017	1.00[EUR][1000 genomes]
rs28401314	1.00[EUR][1000 genomes]
rs55909634	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55941929	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57097865	1.00[EUR][1000 genomes]
rs58869062	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59964313	1.00[EUR][1000 genomes]
rs60949090	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60963357	1.00[EUR][1000 genomes]
rs61333624	1.00[EUR][1000 genomes]
rs61414956	1.00[EUR][1000 genomes]
rs6517694	1.00[EUR][1000 genomes]
rs7275189	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7278407	1.00[EUR][1000 genomes]
rs73357138	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]
rs73366805	0.81[AMR][1000 genomes]
rs73368220	1.00[EUR][1000 genomes]
rs73368227	1.00[EUR][1000 genomes]
rs8126809	1.00[EUR][1000 genomes]
rs8128157	1.00[EUR][1000 genomes]
rs8134616	1.00[EUR][1000 genomes]
rs9975784	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9977577	1.00[EUR][1000 genomes]
rs9977984	1.00[EUR][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:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17584400-17619400	Weak transcription	Hela-S3	cervix
2	chr21:17598000-17622200	Weak transcription	Ovary	ovary
3	chr21:17598000-17622400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr21:17602000-17614000	Weak transcription	Primary hematopoietic stem cells	blood
5	chr21:17606200-17622200	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr21:17611400-17613800	Weak transcription	Fetal Brain Male	brain
7	chr21:17612400-17613800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr21:17612400-17613800	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr21:17612600-17613800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr21:17612600-17613800	Weak transcription	Fetal Heart	heart
11	chr21:17612600-17618800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr21:17613000-17613800	Enhancers	HUVEC	blood vessel
13	chr21:17613400-17613800	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
14	chr21:17613400-17613800	Enhancers	A549	lung
15	chr21:17613400-17614200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr21:17613400-17614800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr21:17613600-17613800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
18	chr21:17613600-17614000	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr21:17613600-17614600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
20	chr21:17613600-17614600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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