Variant report

Variant	rs12043007
Chromosome Location	chr1:93472100-93472101
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11164858	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12022729	0.81[CHB][hapmap]
rs12043577	0.82[CHB][hapmap]
rs2485032	0.88[ASN][1000 genomes]
rs481214	0.95[ASN][1000 genomes]
rs486370	0.87[CHB][hapmap]
rs492054	0.82[CHB][hapmap]
rs492754	0.81[CHB][hapmap]
rs496465	0.82[CHB][hapmap]
rs497540	0.86[CHB][hapmap]
rs572131	0.87[CHB][hapmap]
rs591820	0.86[CHB][hapmap]
rs592751	0.84[CHB][hapmap]
rs680285	0.83[CHB][hapmap]
rs681373	0.95[ASN][1000 genomes]
rs808833	0.83[CHB][hapmap]
rs9787147	0.81[CHB][hapmap]

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	nsv1008602	chr1:93176811-93640808	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv830614	chr1:93465978-93678700	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93467000-93474600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr1:93471600-93478000	Weak transcription	GM12878-XiMat	blood

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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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