Variant report

Variant	rs12580039
Chromosome Location	chr12:118451351-118451352
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11068780	0.89[CHB][hapmap];0.89[MEX][hapmap]
rs12313999	0.89[CHB][hapmap];0.89[MEX][hapmap]
rs12582265	0.83[CEU][hapmap];0.89[CHB][hapmap];1.00[LWK][hapmap];0.94[MEX][hapmap];0.80[AMR][1000 genomes]
rs5745792	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs5745807	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[JPT][hapmap];0.94[MEX][hapmap];0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs5745808	0.96[ASN][1000 genomes]
rs5745820	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5745876	0.91[CEU][hapmap];0.89[CHB][hapmap];0.90[GIH][hapmap];1.00[LWK][hapmap];0.94[MEX][hapmap];0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7485548	0.80[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv560388	chr12:118391600-118482352	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118450200-118453800	Enhancers	K562	blood
2	chr12:118451000-118451600	Enhancers	HepG2	liver
3	chr12:118451200-118453800	Weak transcription	ES-I3 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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