Variant report

Variant	rs2823620
Chromosome Location	chr21:17527197-17527198
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11088571	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1319028	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs2404033	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2404034	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2823621	1.00[JPT][hapmap]
rs2823622	1.00[JPT][hapmap]
rs2823623	1.00[JPT][hapmap]
rs34726086	0.80[ASN][1000 genomes]
rs4404355	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4589845	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7276385	0.88[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs7280731	0.80[ASN][1000 genomes]
rs8133112	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8133115	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	esv3398505	chr21:17499130-17527355	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Active TSS	n/a	n/a	inside rSNPs	diseases
4	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:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17526000-17528400	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr21:17526600-17527200	Enhancers	Brain Germinal Matrix	brain
3	chr21:17526800-17527200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr21:17526800-17527200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr21:17526800-17527200	Enhancers	Brain Anterior Caudate	brain
6	chr21:17526800-17527800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr21:17526800-17528000	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr21:17526800-17528000	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr21:17526800-17528000	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr21:17526800-17528200	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr21:17526800-17528200	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr21:17526800-17528400	Enhancers	Brain Inferior Temporal Lobe	brain
13	chr21:17527000-17527800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr21:17527000-17528200	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr21:17527000-17528200	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr21:17527000-17528400	Enhancers	H1 Cell Line	embryonic stem cell

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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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