Variant report

Variant	rs12547347
Chromosome Location	chr8:99361858-99361859
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:99305008..99306511-chr8:99360584..99363203,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000104361	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10955163	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10955164	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11990127	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12375289	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12541410	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12542247	0.88[ASN][1000 genomes]
rs12545666	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12546215	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13278348	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16892233	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16896889	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34468294	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35717300	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35841793	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4463387	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4543515	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6996904	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6997055	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7002877	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs71514986	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs71514987	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73285674	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7820378	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7837340	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9642950	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032904	chr8:98756076-99476925	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv539687	chr8:98756076-99476925	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv831406	chr8:99290745-99482076	Enhancers Bivalent/Poised TSS ZNF genes & repeats Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv891217	chr8:99346537-99391285	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:99354200-99368200	Weak transcription	NHDF-Ad	bronchial
2	chr8:99354600-99369000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr8:99361400-99362000	ZNF genes & repeats	Ovary	ovary

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