Variant report

Variant	rs960872
Chromosome Location	chr12:39496440-39496441
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10161060	1.00[EUR][1000 genomes]
rs10161061	1.00[EUR][1000 genomes]
rs11834108	1.00[EUR][1000 genomes]
rs11835220	1.00[EUR][1000 genomes]
rs11835264	1.00[EUR][1000 genomes]
rs11835267	1.00[EUR][1000 genomes]
rs11837746	1.00[EUR][1000 genomes]
rs34286441	1.00[EUR][1000 genomes]
rs57432069	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57586482	1.00[EUR][1000 genomes]
rs57806536	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73264505	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73264519	1.00[EUR][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	nsv1047623	chr12:39187817-39539939	Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv832374	chr12:39468434-39630369	Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:39495600-39497800	Enhancers	Hela-S3	cervix
2	chr12:39495800-39497600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr12:39496000-39496800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr12:39496000-39497000	Enhancers	Osteobl	bone
5	chr12:39496000-39497200	Enhancers	HMEC	breast
6	chr12:39496200-39497800	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr12:39496200-39497800	Enhancers	NHEK	skin
8	chr12:39496200-39498000	Enhancers	Liver	Liver

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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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