Variant report

Variant	rs1996620
Chromosome Location	chr2:115567586-115567587
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10180031	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10514813	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11904812	0.97[ASN][1000 genomes]
rs1519668	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1519669	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs319847	0.82[EUR][1000 genomes]
rs319848	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs319849	0.85[EUR][1000 genomes]
rs319851	0.85[EUR][1000 genomes]
rs6542221	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7585051	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874904	chr2:114751691-115605062	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv431502	chr2:115139566-115617936	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv582715	chr2:115495142-115573499	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
4	nsv459019	chr2:115495142-115599013	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:115565600-115567600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr2:115565800-115568800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr2:115567000-115567600	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr2:115567200-115567600	Enhancers	H1 Cell Line	embryonic stem cell
5	chr2:115567200-115567600	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr2:115567200-115567600	Enhancers	HUES64 Cell Line	embryonic stem cell

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Input of quick search could be:

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

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