Variant report

Variant	rs9693461
Chromosome Location	chr8:120188428-120188429
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:120183437..120185122-chr8:120187205..120189919,2	MCF-7	breast:
2	chr8:120187373..120189536-chr8:120204658..120206608,2	MCF-7	breast:
3	chr8:120187989..120192991-chr8:120219405..120223053,6	MCF-7	breast:
4	chr8:120182916..120184889-chr8:120187238..120189541,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000147676	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs11784973	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13248488	0.82[CHB][hapmap]
rs13260963	0.82[ASN][1000 genomes]
rs13260983	0.82[ASN][1000 genomes]
rs13261773	0.82[ASN][1000 genomes]
rs1549414	0.82[CHB][hapmap]
rs1549417	0.82[CHB][hapmap]
rs1549418	0.82[CHB][hapmap]
rs1549419	0.82[CHB][hapmap]
rs16891959	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs16891980	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes]
rs16891997	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs16892010	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes]
rs16892015	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes]
rs16892025	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes]
rs16892203	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16892211	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4455869	0.82[CHB][hapmap]
rs57794504	0.83[AMR][1000 genomes]
rs58657683	0.88[EUR][1000 genomes]
rs58693451	0.88[EUR][1000 genomes]
rs60384705	0.83[AMR][1000 genomes]
rs61123918	0.83[AMR][1000 genomes]
rs61358846	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61560423	0.88[EUR][1000 genomes]
rs61594459	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6469808	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs6989177	0.82[CHB][hapmap]
rs6989178	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs6989291	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs6993537	0.82[CHB][hapmap]
rs6993678	1.00[CHB][hapmap]
rs7009621	0.82[CHB][hapmap]
rs72497323	0.97[ASN][1000 genomes]
rs73312812	0.85[ASN][1000 genomes]
rs73312817	0.85[ASN][1000 genomes]
rs73327282	0.88[EUR][1000 genomes]
rs73329312	0.88[EUR][1000 genomes]
rs73329330	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73329364	0.85[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	nsv868916	chr8:119911943-120762250	Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	esv2758169	chr8:119943309-120275750	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	esv2759639	chr8:119943309-120275750	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv6363	chr8:120150231-120188957	Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120183400-120188800	Weak transcription	Duodenum Mucosa	Duodenum
2	chr8:120188000-120188800	Enhancers	NHEK	skin
3	chr8:120188200-120190200	Enhancers	HMEC	breast
4	chr8:120188400-120189000	Enhancers	Hela-S3	cervix

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