Variant report

Variant	rs17042612
Chromosome Location	chr2:113705194-113705195
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs17042602	0.85[YRI][hapmap];1.00[AMR][1000 genomes]
rs17042611	0.87[YRI][hapmap];1.00[AMR][1000 genomes]
rs17042614	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56826756	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57318387	1.00[AMR][1000 genomes]
rs57413143	1.00[AMR][1000 genomes]
rs6710558	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6749946	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72942428	1.00[AMR][1000 genomes]
rs72942433	1.00[AMR][1000 genomes]
rs72942434	1.00[AMR][1000 genomes]
rs72942436	1.00[AMR][1000 genomes]
rs72942441	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72942447	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72942449	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72942450	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72942454	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72942456	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532471	chr2:113682449-113862981	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv997348	chr2:113688093-113986508	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv979388	chr2:113696105-113705504	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113702600-113705800	ZNF genes & repeats	Liver	Liver
2	chr2:113703000-113711400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:113704000-113705800	Enhancers	Colon Smooth Muscle	Colon
4	chr2:113704200-113705600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:113704600-113705800	Bivalent Enhancer	HepG2	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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