Variant report

Variant	rs9727516
Chromosome Location	chr1:196966105-196966106
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:196964622..196966252-chr1:196968274..196969971,2	MCF-7	breast:

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10801589	0.82[JPT][hapmap]
rs10922163	0.82[JPT][hapmap]
rs1127661	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12755054	0.82[JPT][hapmap]
rs1412635	0.83[JPT][hapmap]
rs1611982	0.87[JPT][hapmap]
rs1750311	0.82[JPT][hapmap]
rs17514584	1.00[AMR][1000 genomes]
rs17514591	1.00[AMR][1000 genomes]
rs17514606	1.00[AMR][1000 genomes]
rs17514732	1.00[AMR][1000 genomes]
rs17514781	1.00[AMR][1000 genomes]
rs17514795	1.00[AMR][1000 genomes]
rs17514802	1.00[AMR][1000 genomes]
rs17514816	1.00[AMR][1000 genomes]
rs17549514	1.00[AMR][1000 genomes]
rs17549540	1.00[AMR][1000 genomes]
rs17549547	1.00[AMR][1000 genomes]
rs17549582	1.00[AMR][1000 genomes]
rs17549596	1.00[AMR][1000 genomes]
rs17549657	1.00[AMR][1000 genomes]
rs17549671	1.00[AMR][1000 genomes]
rs17549818	1.00[AMR][1000 genomes]
rs17549859	1.00[AMR][1000 genomes]
rs17549873	1.00[AMR][1000 genomes]
rs2878749	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs35897746	1.00[AMR][1000 genomes]
rs3748557	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4244139	0.82[JPT][hapmap]
rs56660423	1.00[AMR][1000 genomes]
rs56912014	1.00[AMR][1000 genomes]
rs59560396	1.00[AMR][1000 genomes]
rs5999	1.00[AMR][1000 genomes]
rs6000	1.00[AMR][1000 genomes]
rs60769813	1.00[AMR][1000 genomes]
rs61117530	1.00[AMR][1000 genomes]
rs61249253	1.00[AMR][1000 genomes]
rs61264948	1.00[AMR][1000 genomes]
rs61278057	1.00[AMR][1000 genomes]
rs62624968	1.00[AMR][1000 genomes]
rs6428388	1.00[AMR][1000 genomes]
rs6669374	1.00[AMR][1000 genomes]
rs6669388	1.00[AMR][1000 genomes]
rs6675840	1.00[AMR][1000 genomes]
rs6677930	0.82[JPT][hapmap]
rs6700604	1.00[AMR][1000 genomes]
rs698859	0.92[CHB][hapmap];1.00[JPT][hapmap]
rs7410943	0.83[JPT][hapmap]
rs7520405	1.00[AMR][1000 genomes]
rs7528827	1.00[AMR][1000 genomes]
rs7534439	1.00[AMR][1000 genomes]
rs7535814	1.00[AMR][1000 genomes]
rs7539363	1.00[AMR][1000 genomes]
rs7543584	1.00[AMR][1000 genomes]
rs7545831	1.00[AMR][1000 genomes]
rs7546591	1.00[AMR][1000 genomes]
rs7554881	1.00[AMR][1000 genomes]
rs9427663	0.96[AFR][1000 genomes];1.00[AMR][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	nsv528460	chr1:196542567-197446702	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	esv2758990	chr1:196590837-197169772	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv427897	chr1:196590837-197169772	Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	esv1806946	chr1:196673954-196974876	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	esv2756880	chr1:196709223-197066074	ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
6	esv2750822	chr1:196731148-196993973	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv430124	chr1:196731148-196993973	Enhancers Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	esv34978	chr1:196733133-197011577	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
9	nsv430158	chr1:196733133-197011577	Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
10	nsv430180	chr1:196739837-197007479	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv1003814	chr1:196825211-196982487	Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv1003573	chr1:196825211-197005106	Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 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	chr1:196964600-196968600	Strong transcription	Liver	Liver
2	chr1:196965800-196966200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr1:196966000-196966800	Enhancers	NHDF-Ad	bronchial
4	chr1:196966000-196967000	Enhancers	Osteobl	bone

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