Variant report

Variant	rs11992148
Chromosome Location	chr8:52899095-52899096
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:52897910..52900253-chr8:52910017..52911981,2	MCF-7	breast:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10086504	0.81[CHB][hapmap];0.92[EUR][1000 genomes]
rs10092494	0.84[EUR][1000 genomes]
rs10097328	0.81[CHB][hapmap]
rs10504132	0.81[CHB][hapmap];0.86[CHD][hapmap]
rs10958308	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13281179	0.81[CHB][hapmap]
rs16916974	0.92[EUR][1000 genomes]
rs16916979	0.92[EUR][1000 genomes]
rs16917021	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16917049	0.96[ASN][1000 genomes]
rs16917071	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16917074	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16917075	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2090258	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4873623	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55713338	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56275645	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57745642	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs59734823	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61262162	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7009037	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7010217	0.81[CHB][hapmap];0.89[CHD][hapmap];0.91[GIH][hapmap];1.00[TSI][hapmap]
rs7011046	0.81[CHB][hapmap]
rs7815751	0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817615	chr8:52252405-53023384	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1031672	chr8:52872448-52917469	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1020673	chr8:52878946-52917469	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1017700	chr8:52886765-52917469	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv520947	chr8:52887541-52915994	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv611353	chr8:52887541-52915994	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1027822	chr8:52897278-52916486	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	2 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	chr8:52887000-52906800	Weak transcription	Pancreas	Pancrea
2	chr8:52894000-52899400	Weak transcription	Placenta	Placenta
3	chr8:52897000-52899600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr8:52898600-52901200	Enhancers	HepG2	liver
5	chr8:52898800-52900200	Enhancers	Placenta Amnion	Placenta Amnion

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