Variant report

Variant	rs859267
Chromosome Location	chr17:15826021-15826022
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	chr17:15825518..15827432-chr17:15846826..15848843,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000170425	Chromatin interaction

Extended variants
information (count: 72 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs1102644	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11868331	1.00[EUR][1000 genomes]
rs11868613	1.00[EUR][1000 genomes]
rs11869184	1.00[EUR][1000 genomes]
rs11872072	1.00[EUR][1000 genomes]
rs1622059	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1622062	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1797463	1.00[EUR][1000 genomes]
rs2041458	1.00[GIH][hapmap]
rs2058366	1.00[EUR][1000 genomes]
rs2482988	0.99[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2535600	1.00[EUR][1000 genomes]
rs2535602	1.00[EUR][1000 genomes]
rs2535604	1.00[EUR][1000 genomes]
rs2779190	0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2779191	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2779194	1.00[EUR][1000 genomes]
rs2779195	1.00[GIH][hapmap]
rs2779203	1.00[EUR][1000 genomes]
rs3859259	1.00[EUR][1000 genomes]
rs4791645	1.00[EUR][1000 genomes]
rs4791646	1.00[EUR][1000 genomes]
rs4791651	1.00[EUR][1000 genomes]
rs4791654	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4792695	1.00[EUR][1000 genomes]
rs4792696	1.00[EUR][1000 genomes]
rs4792697	1.00[EUR][1000 genomes]
rs4792698	1.00[EUR][1000 genomes]
rs484520	1.00[EUR][1000 genomes]
rs500752	1.00[EUR][1000 genomes]
rs513190	1.00[EUR][1000 genomes]
rs708592	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7209188	1.00[EUR][1000 genomes]
rs758854	1.00[EUR][1000 genomes]
rs758855	1.00[EUR][1000 genomes]
rs758856	1.00[EUR][1000 genomes]
rs758858	1.00[GIH][hapmap]
rs8079191	1.00[EUR][1000 genomes]
rs859225	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs859227	1.00[ASN][1000 genomes]
rs859231	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs859239	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs859241	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs859242	0.99[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs859244	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs859245	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs859249	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs859250	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs859251	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs859254	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs859258	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs859259	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs859260	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs859261	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs859262	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs859263	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs859264	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs859265	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs859266	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs859268	0.99[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916652	chr17:15093600-15856310	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	nsv1059056	chr17:15294011-15856861	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv934185	chr17:15552960-16551197	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	190 gene(s)	inside rSNPs	diseases
4	nsv1062951	chr17:15561070-15890644	Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv1066023	chr17:15607267-16053512	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
6	esv3330182	chr17:15652014-16569534	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
7	esv3446844	chr17:15654843-16572246	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
8	nsv1061222	chr17:15672934-15999778	ZNF genes & repeats Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
9	nsv907706	chr17:15731923-16056442	ZNF genes & repeats Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
10	nsv1067555	chr17:15804228-16001117	Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
11	nsv1063459	chr17:15804228-16543593	Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
12	nsv1061987	chr17:15810017-15855135	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Immune reponse to smallpox (secreted IL-12p40)	22610502	GWAS catalog

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15823000-15828200	Weak transcription	Stomach Smooth Muscle	stomach
2	chr17:15823200-15829000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr17:15824600-15829800	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr17:15824600-15830800	Weak transcription	Placenta	Placenta

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