Variant report

Variant	rs12152045
Chromosome Location	chr21:28374354-28374355
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs11909037	1.00[CHB][hapmap]
rs12152042	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12483612	1.00[ASN][1000 genomes]
rs1497283	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1497285	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1497286	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1497287	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs162490	1.00[JPT][hapmap]
rs162492	1.00[JPT][hapmap]
rs162498	1.00[JPT][hapmap]
rs162501	1.00[JPT][hapmap]
rs162504	1.00[JPT][hapmap]
rs162510	1.00[JPT][hapmap]
rs17663092	1.00[CHB][hapmap]
rs1846024	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1908952	1.00[ASN][1000 genomes]
rs229053	1.00[JPT][hapmap]
rs229076	1.00[JPT][hapmap]
rs229078	1.00[JPT][hapmap]
rs229087	1.00[JPT][hapmap]
rs229088	1.00[JPT][hapmap]
rs229093	1.00[JPT][hapmap]
rs229095	1.00[JPT][hapmap]
rs229097	1.00[JPT][hapmap]
rs55771980	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56734947	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58512366	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73358063	0.85[EUR][1000 genomes]
rs73358075	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73358100	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73360007	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7348989	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8130700	1.00[ASN][1000 genomes]
rs8992	1.00[JPT][hapmap]
rs9305294	1.00[CHB][hapmap]
rs9976701	1.00[CHB][hapmap]
rs9977087	1.00[CHB][hapmap]
rs9978597	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1066573	chr21:28096356-28374354	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1067475	chr21:28238746-29046707	Enhancers Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28351800-28416600	Weak transcription	Ovary	ovary
2	chr21:28366600-28394800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr21:28373400-28374600	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr21:28373800-28374600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr21:28373800-28374600	Enhancers	Osteobl	bone
6	chr21:28374000-28374800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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