Variant report

Variant	rs58611293
Chromosome Location	chr21:17856349-17856350
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12483106	1.00[EUR][1000 genomes]
rs2823823	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2823824	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2823829	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2823840	0.93[AMR][1000 genomes]
rs2823841	0.85[AMR][1000 genomes]
rs2823848	1.00[EUR][1000 genomes]
rs58981188	0.93[AMR][1000 genomes]
rs8126961	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8131711	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8131829	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9975284	0.90[ASN][1000 genomes]
rs9976995	1.00[EUR][1000 genomes]
rs9984951	0.90[ASN][1000 genomes]
rs9984970	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064857	chr21:17628760-18533131	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	345 gene(s)	inside rSNPs	diseases
2	nsv544382	chr21:17628760-18533131	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	345 gene(s)	inside rSNPs	diseases
3	nsv913416	chr21:17728224-17863882	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	esv3344497	chr21:17855756-17857854	Weak transcription	n/a	n/a	inside rSNPs	diseases
5	esv3421314	chr21:17856181-17857529	Weak transcription	n/a	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17840400-17860800	Weak transcription	HUVEC	blood vessel
2	chr21:17841000-17881800	Weak transcription	Hela-S3	cervix
3	chr21:17846600-17859400	Weak transcription	Ovary	ovary
4	chr21:17846800-17864000	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr21:17849000-17863000	Weak transcription	Liver	Liver
6	chr21:17850800-17858400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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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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