Variant report

Variant	rs57048210
Chromosome Location	chr5:119687720-119687721
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10041241	1.00[EUR][1000 genomes]
rs10042714	1.00[EUR][1000 genomes]
rs10053092	1.00[EUR][1000 genomes]
rs10054975	1.00[EUR][1000 genomes]
rs10055103	1.00[EUR][1000 genomes]
rs10055228	1.00[EUR][1000 genomes]
rs10056038	1.00[EUR][1000 genomes]
rs10063521	1.00[EUR][1000 genomes]
rs10213754	1.00[EUR][1000 genomes]
rs10477597	1.00[EUR][1000 genomes]
rs13359038	1.00[EUR][1000 genomes]
rs188522	1.00[EUR][1000 genomes]
rs28662353	1.00[EUR][1000 genomes]
rs28668949	1.00[EUR][1000 genomes]
rs28889136	1.00[EUR][1000 genomes]
rs9327133	1.00[EUR][1000 genomes]
rs951593	1.00[EUR][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	nsv532200	chr5:119317901-120102513	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv882786	chr5:119615110-119714817	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1018955	chr5:119679918-119802014	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:119687400-119689800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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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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