Variant report

Variant	rs2830757
Chromosome Location	chr21:28563495-28563496
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1676543	0.82[EUR][1000 genomes]
rs1676546	0.81[EUR][1000 genomes]
rs1676562	0.82[EUR][1000 genomes]
rs1676563	0.82[EUR][1000 genomes]
rs173123	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs173124	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1788324	0.82[EUR][1000 genomes]
rs1788325	0.82[EUR][1000 genomes]
rs1788326	0.82[EUR][1000 genomes]
rs1788327	0.82[EUR][1000 genomes]
rs1788329	0.81[EUR][1000 genomes]
rs2251888	0.82[EUR][1000 genomes]
rs235943	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs235944	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs235945	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs235946	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs235947	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs235948	0.85[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs235949	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs235950	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs235963	0.82[EUR][1000 genomes]
rs28393903	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs422076	0.82[EUR][1000 genomes]
rs453687	0.82[EUR][1000 genomes]
rs72493745	0.82[EUR][1000 genomes]
rs7278178	0.90[ASN][1000 genomes]
rs73374980	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs955857	0.80[EUR][1000 genomes]
rs957228	0.80[EUR][1000 genomes]
rs9636576	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9636577	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9636793	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[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	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
2	nsv459229	chr21:28543456-29482488	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv587342	chr21:28543456-29482488	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	nsv459231	chr21:28543715-28563495	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	n/a
5	nsv587343	chr21:28543715-28563495	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	inside rSNPs	n/a
6	nsv834070	chr21:28546745-28709950	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28562200-28563800	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr21:28562200-28563800	Enhancers	Hela-S3	cervix
3	chr21:28562600-28563800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr21:28562800-28563600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr21:28563000-28563800	Enhancers	Fetal Kidney	kidney
6	chr21:28563000-28563800	Enhancers	Osteobl	bone
7	chr21:28563400-28564400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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