Variant report

Variant	rs7463050
Chromosome Location	chr8:111729199-111729200
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11988217	1.00[EUR][1000 genomes]
rs11992030	1.00[EUR][1000 genomes]
rs11992740	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16881058	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4270933	1.00[EUR][1000 genomes]
rs4276660	1.00[EUR][1000 genomes]
rs57140595	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58124990	1.00[EUR][1000 genomes]
rs60351304	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6992503	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6997576	1.00[EUR][1000 genomes]
rs73315859	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73315898	1.00[EUR][1000 genomes]
rs73317962	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73317974	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73317977	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73319771	1.00[EUR][1000 genomes]
rs73324493	1.00[EUR][1000 genomes]
rs957737	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831422	chr8:111578949-111755170	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
2	nsv1027659	chr8:111585843-111875753	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1025390	chr8:111605571-111806020	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv539718	chr8:111605571-111806020	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv831423	chr8:111672801-111869818	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	esv1851720	chr8:111694657-111754075	Enhancers Flanking Active TSS Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
7	nsv891293	chr8:111704563-111822043	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
8	nsv1031245	chr8:111716585-111875753	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv982113	chr8:111725262-111731010	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:111726200-111729600	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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