Variant report

Variant	rs2216329
Chromosome Location	chr2:56566170-56566171
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10166638	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10173561	0.85[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs10178971	0.92[CEU][hapmap];0.89[EUR][1000 genomes]
rs10179998	1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs10183017	0.91[CHB][hapmap];0.87[JPT][hapmap];0.86[ASN][1000 genomes]
rs10200099	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10202401	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10206915	0.91[JPT][hapmap]
rs10460558	0.92[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12469239	0.87[JPT][hapmap]
rs1978376	0.95[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs1978377	0.91[CHB][hapmap];0.87[JPT][hapmap];0.83[ASN][1000 genomes]
rs1990759	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2058870	0.90[CHB][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs2058871	0.83[ASN][1000 genomes]
rs2111470	0.92[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2111472	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2193481	0.85[EUR][1000 genomes]
rs2869809	0.96[CEU][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34092204	0.85[EUR][1000 genomes]
rs3886957	0.95[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs4141565	0.90[CHB][hapmap];0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs4141566	0.90[CHB][hapmap];0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs56777938	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57973944	1.00[ASN][1000 genomes]
rs6545571	0.81[CEU][hapmap];0.84[EUR][1000 genomes]
rs6706818	0.92[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6710324	0.83[ASN][1000 genomes]
rs6721952	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6722198	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6731831	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6736091	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6761258	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7601878	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9679639	0.86[ASN][1000 genomes]
rs9808260	0.83[ASN][1000 genomes]
rs9917186	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530516	chr2:56447922-56633505	Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv874170	chr2:56496589-56590865	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv834093	chr2:56538097-56708677	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv1004449	chr2:56538460-56715861	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv874171	chr2:56545845-56727178	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv582032	chr2:56551074-56599354	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:56560600-56575400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:56562000-56566200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr2:56562400-56577600	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr2:56564000-56567400	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr2:56564400-56566800	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr2:56564600-56566600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr2:56564800-56566200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr2:56564800-56566400	Weak transcription	Adipose Nuclei	Adipose
9	chr2:56564800-56574200	Weak transcription	HSMM	muscle
10	chr2:56565800-56567200	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr2:56566000-56566400	Enhancers	Fetal Heart	heart
12	chr2:56566000-56567000	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr2:56566000-56567400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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