Variant report

Variant	rs56349340
Chromosome Location	chr2:56704038-56704039
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17047928	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17047929	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17048057	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55798719	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57548646	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73940707	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73942405	1.00[EUR][1000 genomes]
rs73942438	1.00[AMR][1000 genomes]
rs73942439	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73942440	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73942442	1.00[AMR][1000 genomes]
rs73942452	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73942453	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834093	chr2:56538097-56708677	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
2	nsv1004449	chr2:56538460-56715861	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv874171	chr2:56545845-56727178	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv874172	chr2:56638856-56811749	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	esv2757800	chr2:56659685-56851198	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	esv2759052	chr2:56659685-56851198	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	esv2752438	chr2:56700945-56788111	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv874173	chr2:56702495-56761626	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv874174	chr2:56702495-56761998	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv582049	chr2:56702495-56787100	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv582050	chr2:56702495-56854346	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:56703600-56704200	Enhancers	Left Ventricle	heart
2	chr2:56703600-56704800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr2:56703800-56704200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:56703800-56704400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr2:56703800-56704400	Enhancers	NHEK	skin
6	chr2:56704000-56704200	Enhancers	Adipose Nuclei	Adipose
7	chr2:56704000-56704400	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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