Variant report

Variant	rs7575713
Chromosome Location	chr2:181693080-181693081
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10930944	0.80[AMR][1000 genomes]
rs12618669	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12624291	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12693262	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12995535	0.84[AMR][1000 genomes]
rs3923258	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4267479	0.83[AMR][1000 genomes]
rs4283381	0.81[AMR][1000 genomes]
rs4635494	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7590308	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834475	chr2:181537463-181724891	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 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	chr2:181688800-181694200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr2:181689000-181693400	Weak transcription	NHEK	skin
3	chr2:181689000-181693600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:181689000-181693600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr2:181689000-181693800	Weak transcription	HMEC	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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