Variant report

Variant	rs2730740
Chromosome Location	chr12:119219819-119219820
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs2649966	1.00[ASN][1000 genomes]
rs2649967	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2649968	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2649969	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2698047	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2698049	1.00[ASN][1000 genomes]
rs2698050	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2698051	1.00[CHB][hapmap];0.95[ASN][1000 genomes]
rs2698053	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2698088	1.00[CEU][hapmap]
rs2730428	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2730429	0.95[ASN][1000 genomes]
rs2730708	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2730713	0.96[AMR][1000 genomes]
rs2730714	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2730716	1.00[CEU][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	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	nsv519756	chr12:119092357-119227242	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:119218200-119220200	Enhancers	HepG2	liver
2	chr12:119219000-119220600	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr12:119219200-119220400	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr12:119219200-119220400	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr12:119219200-119220800	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr12:119219200-119220800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr12:119219400-119220400	Enhancers	H1 Cell Line	embryonic stem cell
8	chr12:119219400-119220400	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr12:119219400-119220600	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr12:119219800-119220000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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