Variant report

Variant	rs56360920
Chromosome Location	chr8:5002996-5002997
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:5002812-5003153	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
RN7SL318P	TF binding region

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10109616	1.00[EUR][1000 genomes]
rs11990529	1.00[EUR][1000 genomes]
rs56137369	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs56354951	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs57263244	1.00[EUR][1000 genomes]
rs58363384	1.00[EUR][1000 genomes]
rs59463437	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59690385	1.00[EUR][1000 genomes]
rs60245174	1.00[EUR][1000 genomes]
rs61317727	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73509448	1.00[EUR][1000 genomes]
rs73659703	1.00[AFR][1000 genomes]
rs73659704	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73659706	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73659743	1.00[EUR][1000 genomes]
rs73659745	1.00[EUR][1000 genomes]
rs73659749	1.00[EUR][1000 genomes]
rs73659751	1.00[EUR][1000 genomes]
rs73659757	1.00[EUR][1000 genomes]
rs73659760	1.00[EUR][1000 genomes]
rs73661838	1.00[EUR][1000 genomes]
rs73661839	1.00[EUR][1000 genomes]
rs73661842	1.00[EUR][1000 genomes]
rs73661854	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73661855	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73661873	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73661885	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73661886	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73661894	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73661897	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73661898	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73661900	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7827359	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv609876	chr8:4494811-5092970	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1029480	chr8:4497596-5081032	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv498130	chr8:4532988-5176376	Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1031026	chr8:4771072-5054326	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv889978	chr8:4853197-5460166	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv1028846	chr8:4907673-5128665	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	3 gene(s)	inside rSNPs	diseases
7	nsv1025394	chr8:4939429-5041417	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv889980	chr8:4940320-5112194	Active TSS ZNF genes & repeats Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv1033108	chr8:4957499-5067611	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv539406	chr8:4957499-5067611	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv1028032	chr8:4967369-5032325	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv889981	chr8:4969414-5026520	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	nsv1030930	chr8:4974111-5044712	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	esv2761400	chr8:4990205-5044712	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 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	chr8:5001800-5003600	Enhancers	NHEK	skin
2	chr8:5002400-5003600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr8:5002600-5003400	Enhancers	iPS-20b Cell Line	embryonic stem cell

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