Variant report

Variant	rs11123047
Chromosome Location	chr2:125228023-125228024
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1354392	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1503998	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2042657	0.97[AFR][1000 genomes]
rs2089103	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2920061	0.97[AFR][1000 genomes]
rs2968541	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6541953	0.94[AFR][1000 genomes]
rs6541954	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6707283	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6731776	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014610	chr2:125124983-125350342	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
2	nsv834355	chr2:125128585-125291043	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv834356	chr2:125141494-125315418	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:125227600-125228800	ZNF genes & repeats	hESC Derived CD184+ Endoderm 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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