Variant report

Variant	rs5013650
Chromosome Location	chr8:60135459-60135460
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10091892	0.82[AMR][1000 genomes]
rs10095970	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10100411	0.82[EUR][1000 genomes]
rs10103583	0.82[EUR][1000 genomes]
rs10105498	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10113240	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11780357	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12547861	0.82[AMR][1000 genomes]
rs12678634	0.82[AMR][1000 genomes]
rs13438889	0.82[AMR][1000 genomes]
rs16924763	0.90[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs28433486	0.82[AMR][1000 genomes]
rs57168034	0.90[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6996674	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9886425	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831327	chr8:60008412-60159152	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv831328	chr8:60062971-60288276	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv1029441	chr8:60099776-60539141	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv539629	chr8:60099776-60539141	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	esv3323551	chr8:60119947-60147653	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv611412	chr8:60130296-60136375	Bivalent Enhancer ZNF genes & repeats Enhancers Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv611413	chr8:60132194-60136375	Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv511399	chr8:60132194-60146239	Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv611414	chr8:60133443-60136375	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv824654	chr8:60135376-60136243	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
11	nsv824655	chr8:60135376-60136596	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:60132200-60142400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:60135400-60135600	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
3	chr8:60135400-60136600	Enhancers	Pancreatic Islets	Pancreatic Islet

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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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