Variant report

Variant	rs12469239
Chromosome Location	chr2:56528075-56528076
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10173561	0.91[CEU][hapmap];0.82[JPT][hapmap];0.90[EUR][1000 genomes]
rs10178971	0.95[CHB][hapmap]
rs10179998	0.86[CEU][hapmap];0.86[JPT][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10183017	0.95[JPT][hapmap];0.85[YRI][hapmap];0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10198922	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10206915	0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10460558	0.91[CHB][hapmap];0.91[JPT][hapmap]
rs1549030	0.95[CEU][hapmap];0.82[CHB][hapmap];0.85[EUR][1000 genomes]
rs1978376	0.83[JPT][hapmap];0.85[YRI][hapmap];0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1978377	0.84[CEU][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2058870	0.87[CEU][hapmap];0.83[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2058871	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2111470	0.91[CHB][hapmap];0.91[JPT][hapmap]
rs2111472	0.87[JPT][hapmap]
rs2216329	0.87[JPT][hapmap]
rs2869809	0.91[CHB][hapmap]
rs3886957	0.83[JPT][hapmap];0.86[YRI][hapmap];0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4141565	0.83[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4141566	0.87[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs57973944	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6545564	0.88[EUR][1000 genomes]
rs6706818	0.91[CHB][hapmap];0.91[JPT][hapmap]
rs6710324	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6714529	0.88[EUR][1000 genomes]
rs6722198	0.91[CEU][hapmap];0.85[JPT][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6731831	0.86[JPT][hapmap]
rs6761258	0.89[EUR][1000 genomes]
rs7355289	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7561764	0.89[YRI][hapmap];0.87[AFR][1000 genomes]
rs888281	0.82[CHB][hapmap]
rs9679639	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9808260	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[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	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	nsv522006	chr2:56496589-56545845	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
3	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

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:56527200-56530000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr2:56527400-56531200	Weak transcription	Adipose Nuclei	Adipose
3	chr2:56527400-56540600	Weak transcription	Left Ventricle	heart
4	chr2:56527400-56547400	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr2:56527600-56561000	Weak transcription	HSMM	muscle

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