Variant report

Variant	rs239612
Chromosome Location	chr21:28662737-28662738
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1452084	0.84[ASN][1000 genomes]
rs1839931	0.86[ASN][1000 genomes]
rs239606	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs239607	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs239608	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs239609	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs239610	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs239611	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs239615	0.86[ASN][1000 genomes]
rs239684	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs239685	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs239686	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs239704	0.89[EUR][1000 genomes]
rs4450706	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73903713	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	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
5	nsv587345	chr21:28631839-28663985	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
6	nsv913662	chr21:28632360-28702427	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv913663	chr21:28635971-28670180	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	inside rSNPs	diseases
8	nsv913664	chr21:28643868-28664865	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	n/a	n/a	inside rSNPs	n/a
9	esv1831608	chr21:28659037-28738059	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28662000-28663000	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr21:28662000-28663600	Enhancers	Muscle Satellite Cultured Cells	--
3	chr21:28662000-28664600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr21:28662400-28662800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr21:28662400-28662800	Enhancers	Hela-S3	cervix
6	chr21:28662400-28663000	Enhancers	Fetal Kidney	kidney
7	chr21:28662400-28663200	Enhancers	NHDF-Ad	bronchial
8	chr21:28662400-28664800	Enhancers	HSMM	muscle
9	chr21:28662600-28662800	Flanking Active TSS	Osteobl	bone
10	chr21:28662600-28663000	Enhancers	NHLF	lung
11	chr21:28662600-28663400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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