Variant report

Variant	rs2471718
Chromosome Location	chr4:28565233-28565234
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 116 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:111)

rs_ID	r²[population]
rs10021733	0.91[ASN][1000 genomes]
rs10027922	0.81[ASN][1000 genomes]
rs10805278	0.91[ASN][1000 genomes]
rs12501893	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12505899	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12641531	0.91[ASN][1000 genomes]
rs12648642	0.91[ASN][1000 genomes]
rs1303816	0.81[ASN][1000 genomes]
rs1303817	0.86[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs1303818	0.90[ASN][1000 genomes]
rs1303819	0.90[ASN][1000 genomes]
rs13123915	0.86[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs13125329	1.00[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs13132764	0.90[ASN][1000 genomes]
rs13147296	0.86[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs1389178	0.91[ASN][1000 genomes]
rs1493150	0.91[ASN][1000 genomes]
rs1514126	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1514128	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1514129	0.91[ASN][1000 genomes]
rs1565703	0.91[ASN][1000 genomes]
rs167104	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs182378	0.90[ASN][1000 genomes]
rs2047031	0.91[ASN][1000 genomes]
rs2221775	0.90[ASN][1000 genomes]
rs2248575	0.91[ASN][1000 genomes]
rs2458606	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2458607	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2458608	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2458613	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2458614	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2458616	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2458617	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2458618	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2458619	0.91[ASN][1000 genomes]
rs2458621	0.83[ASN][1000 genomes]
rs2458624	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2458626	0.91[ASN][1000 genomes]
rs2458627	0.91[ASN][1000 genomes]
rs2458628	0.91[ASN][1000 genomes]
rs2458629	0.83[ASN][1000 genomes]
rs2458630	0.91[ASN][1000 genomes]
rs2471685	0.91[ASN][1000 genomes]
rs2471687	0.91[ASN][1000 genomes]
rs2471689	0.91[ASN][1000 genomes]
rs2471690	0.91[ASN][1000 genomes]
rs2471691	0.91[ASN][1000 genomes]
rs2471692	0.91[ASN][1000 genomes]
rs2471703	0.91[ASN][1000 genomes]
rs2471705	0.91[ASN][1000 genomes]
rs2471707	0.91[ASN][1000 genomes]
rs2471709	0.91[ASN][1000 genomes]
rs2471710	0.91[ASN][1000 genomes]
rs2471711	0.91[ASN][1000 genomes]
rs2471715	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2471717	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2471719	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2471720	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2471721	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2666117	0.90[ASN][1000 genomes]
rs28406281	0.91[ASN][1000 genomes]
rs28645352	0.90[ASN][1000 genomes]
rs292014	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs292034	0.90[ASN][1000 genomes]
rs292049	0.90[ASN][1000 genomes]
rs292055	0.86[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs292057	0.86[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs292060	0.90[ASN][1000 genomes]
rs292072	0.90[ASN][1000 genomes]
rs292076	0.86[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs292078	0.86[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs292079	0.90[ASN][1000 genomes]
rs292082	0.90[ASN][1000 genomes]
rs292084	0.90[ASN][1000 genomes]
rs292085	0.90[ASN][1000 genomes]
rs2943155	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2943156	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2943157	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2943158	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2943160	0.91[ASN][1000 genomes]
rs2960592	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2995111	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4234996	0.91[ASN][1000 genomes]
rs4234997	0.91[ASN][1000 genomes]
rs4280716	0.91[ASN][1000 genomes]
rs4367162	0.91[ASN][1000 genomes]
rs4377578	0.91[ASN][1000 genomes]
rs4382025	0.91[ASN][1000 genomes]
rs4472125	0.91[ASN][1000 genomes]
rs4605640	0.91[ASN][1000 genomes]
rs4692334	0.91[ASN][1000 genomes]
rs4692335	0.91[ASN][1000 genomes]
rs4692340	0.91[ASN][1000 genomes]
rs4692341	0.91[ASN][1000 genomes]
rs4692343	0.91[ASN][1000 genomes]
rs542264	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55684803	0.90[ASN][1000 genomes]
rs557255	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs567993	0.86[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs569100	0.86[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs611376	0.86[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs673272	0.86[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs687535	0.90[ASN][1000 genomes]
rs702	0.91[ASN][1000 genomes]
rs7655105	0.91[ASN][1000 genomes]
rs7672198	0.91[ASN][1000 genomes]
rs7693339	0.81[ASN][1000 genomes]
rs7695696	0.91[ASN][1000 genomes]
rs7698467	0.91[ASN][1000 genomes]
rs9784504	0.91[ASN][1000 genomes]
rs9790669	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010133	chr4:28273244-28642942	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1014938	chr4:28277683-28642942	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	esv2757926	chr4:28543958-28839437	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
4	esv2759239	chr4:28543958-28839437	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
5	esv3384238	chr4:28563604-28565602	Weak transcription Enhancers	n/a	n/a	inside rSNPs	n/a

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:28559600-28566600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr4:28564800-28565400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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