Variant report

Variant	rs10854413
Chromosome Location	chr21:17543735-17543736
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11908760	0.80[EUR][1000 genomes]
rs11911225	0.80[EUR][1000 genomes]
rs1543773	1.00[CHB][hapmap];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16995014	1.00[CHB][hapmap]
rs171190	0.85[CEU][hapmap]
rs2187061	1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs239035	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs239036	1.00[CHB][hapmap];0.81[EUR][1000 genomes]
rs239037	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs239043	0.82[CEU][hapmap]
rs2823626	1.00[CHB][hapmap];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2823627	1.00[CHB][hapmap];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2823628	0.82[CEU][hapmap]
rs6517690	0.83[EUR][1000 genomes]
rs7275630	0.80[EUR][1000 genomes]
rs7281143	0.82[EUR][1000 genomes]
rs7282315	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7283583	1.00[CEU][hapmap];0.82[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73364817	1.00[ASN][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	nsv1066951	chr21:17458978-17603160	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv544381	chr21:17458978-17603160	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1065028	chr21:17522588-17572535	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17527200-17553000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr21:17542200-17543800	Enhancers	Hela-S3	cervix
3	chr21:17542200-17544600	Weak transcription	Brain Cingulate Gyrus	brain
4	chr21:17542200-17548600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr21:17543200-17551200	Weak transcription	A549	lung
6	chr21:17543400-17552600	Weak transcription	Brain Anterior Caudate	brain
7	chr21:17543400-17553000	Weak transcription	Cortex derived primary cultured neurospheres	brain

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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