Variant report

Variant	rs1395868
Chromosome Location	chr2:189543514-189543515
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10173411	0.88[ASN][1000 genomes]
rs10199260	1.00[JPT][hapmap]
rs1066766	0.82[EUR][1000 genomes]
rs10804021	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10931363	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10931369	0.87[EUR][1000 genomes]
rs10931376	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11676859	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11683089	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11683183	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11695316	1.00[JPT][hapmap]
rs11889220	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11889402	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12463744	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.87[EUR][1000 genomes]
rs12475894	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12476413	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12988921	0.83[EUR][1000 genomes]
rs13011602	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13025659	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13392850	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13393057	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13396968	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs13412448	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs13418031	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1354902	1.00[JPT][hapmap]
rs1354904	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs1354908	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1354910	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs1507551	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1507560	0.86[EUR][1000 genomes]
rs1507561	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1567184	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[EUR][1000 genomes]
rs1580993	0.87[EUR][1000 genomes]
rs1588121	0.82[EUR][1000 genomes]
rs1911602	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2350903	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4146570	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4591284	0.89[EUR][1000 genomes]
rs4667231	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs59665009	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs6707212	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6708451	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6756504	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs698552	0.82[EUR][1000 genomes]
rs698553	1.00[ASN][1000 genomes]
rs698554	0.82[EUR][1000 genomes]
rs698556	0.82[EUR][1000 genomes]
rs698557	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7419798	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7420808	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7422739	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap]
rs7423554	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7582643	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7587596	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7596299	0.88[EUR][1000 genomes]
rs7602180	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7609211	1.00[ASN][1000 genomes]
rs781261	0.84[CEU][hapmap];1.00[CHB][hapmap]
rs781280	0.86[CEU][hapmap]
rs8273	0.89[ASW][hapmap];0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.88[EUR][1000 genomes]
rs955813	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9752583	0.88[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	nsv1003974	chr2:189331760-189827814	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv1000932	chr2:189542210-189677277	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv536088	chr2:189542210-189677277	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189541200-189545000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr2:189543400-189543800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr2:189543400-189544000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr2:189543400-189544200	Enhancers	Osteobl	bone

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