Variant report

Variant	rs6594357
Chromosome Location	chr5:108541223-108541224
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11240997	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12517902	0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs13179986	0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4445019	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4475287	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4957570	0.83[CEU][hapmap];0.87[CHB][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4957800	0.84[CEU][hapmap];0.88[CHB][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs59383615	0.81[AMR][1000 genomes]
rs6594352	0.98[ASN][1000 genomes]
rs6865751	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6875865	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6882846	0.84[ASN][1000 genomes]
rs7708636	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7715933	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7730149	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7735422	0.94[CEU][hapmap];1.00[CHB][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027163	chr5:108445447-108839913	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	esv2756048	chr5:108448101-108542101	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	esv1792067	chr5:108521224-108542526	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv599338	chr5:108528729-108675737	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	esv17811	chr5:108537620-108555452	ZNF genes & repeats Enhancers Weak transcription	lncRNA	n/a	inside rSNPs	diseases
6	esv15521	chr5:108538428-108543579	Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:108527800-108542800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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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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