Variant report

Variant	rs3111790
Chromosome Location	chr4:80558720-80558721
allele	G/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:8)

rs_ID	r²[population]
rs3109166	1.00[ASN][1000 genomes]
rs60613746	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62297619	0.95[ASN][1000 genomes]
rs62297620	0.94[ASN][1000 genomes]
rs62297622	0.90[ASN][1000 genomes]
rs7665378	0.97[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs7687586	0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7688923	0.97[ASN][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	nsv879506	chr4:80316417-80604625	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1002031	chr4:80459528-80759113	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1005152	chr4:80549659-80814456	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 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	chr4:80553000-80559400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr4:80555600-80566600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr4:80555600-80566800	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr4:80556400-80559800	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr4:80558400-80559600	Weak transcription	Dnd41	blood

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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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