Variant report

Variant	rs13030704
Chromosome Location	chr2:76957539-76957540
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12713880	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13000465	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13005867	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13009537	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13030472	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35030300	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35129034	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35989944	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs71420954	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]

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	nsv582235	chr2:76881210-76997763	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv874319	chr2:76949101-76979415	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:76956000-76957800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr2:76956200-76957800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr2:76957400-76957600	Enhancers	HUES48 Cell Line	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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