Variant report

Variant	rs2823677
Chromosome Location	chr21:17612228-17612229
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs1533	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1534	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1626109	1.00[CEU][hapmap];0.89[CHB][hapmap];0.83[JPT][hapmap];0.83[YRI][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs16994832	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1786836	0.83[CHB][hapmap];0.85[JPT][hapmap]
rs238973	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs238974	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs238976	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs238980	1.00[CEU][hapmap]
rs238981	0.80[ASN][1000 genomes]
rs238983	1.00[CEU][hapmap]
rs238988	1.00[CEU][hapmap]
rs238990	1.00[CEU][hapmap]
rs238992	1.00[CEU][hapmap]
rs239078	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs239080	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2823644	0.83[JPT][hapmap]
rs2823648	1.00[CEU][hapmap]
rs2823672	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2823675	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2823676	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2823678	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2823679	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2823682	1.00[CEU][hapmap]
rs2823683	1.00[CEU][hapmap]
rs2823684	0.83[CHB][hapmap];0.82[ASN][1000 genomes]
rs2823688	0.81[CHB][hapmap]
rs2823689	0.82[CHB][hapmap]
rs2823690	0.83[CHB][hapmap]
rs2823691	0.83[CHB][hapmap]
rs2823694	0.83[CHB][hapmap]
rs2823698	0.83[CHB][hapmap]
rs2823701	0.83[CHB][hapmap]
rs62219539	0.87[EUR][1000 genomes]
rs62221866	0.87[EUR][1000 genomes]
rs62221867	0.87[EUR][1000 genomes]
rs62221868	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7279847	0.83[JPT][hapmap]
rs7282249	0.87[EUR][1000 genomes]
rs8126809	0.83[CHB][hapmap]
rs8127653	0.86[CHB][hapmap]
rs8131686	1.00[CEU][hapmap]
rs8132985	0.84[JPT][hapmap]

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:14 , 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	chr21:17612000-17613400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr21:17612200-17612400	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr21:17612200-17612400	ZNF genes & repeats	Adipose Nuclei	Adipose
10	chr21:17612200-17612400	Enhancers	Brain Inferior Temporal Lobe	brain
11	chr21:17612200-17612600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr21:17612200-17612600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr21:17612200-17612600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
14	chr21:17612200-17613600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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