Variant report

Variant	rs62512260
Chromosome Location	chr8:59140468-59140469
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11994480	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57937608	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62513532	0.89[EUR][1000 genomes]
rs62513533	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62513534	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62513536	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62513537	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62513539	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62513540	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62513541	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62514784	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6995967	0.91[AMR][1000 genomes]

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	nsv1024575	chr8:59101248-59141010	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv526320	chr8:59138364-59148256	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:59137600-59141400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:59138600-59142000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr8:59140200-59149600	Weak transcription	Fetal Lung	lung

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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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