Variant report

Variant	rs2730594
Chromosome Location	chr12:119059299-119059300
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1520781	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1851094	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1970875	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2682734	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2682760	0.87[EUR][1000 genomes]
rs2682763	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2682773	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2730552	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2730562	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2730568	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2730574	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2730602	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[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	nsv930978	chr12:118866332-119450600	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv1043906	chr12:118991884-119087146	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:119049400-119059800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:119056600-119060000	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr12:119057200-119060600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr12:119057800-119062800	Weak transcription	iPS-18 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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