Variant report

Variant	rs10940572
Chromosome Location	chr5:57000717-57000718
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10063185	0.86[EUR][1000 genomes]
rs10461637	0.96[EUR][1000 genomes]
rs10805498	0.99[EUR][1000 genomes]
rs10940569	0.86[ASN][1000 genomes]
rs10940570	0.87[ASN][1000 genomes]
rs10940571	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10940573	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10940575	0.86[EUR][1000 genomes]
rs10940576	0.96[EUR][1000 genomes]
rs11738377	0.87[ASN][1000 genomes]
rs11738862	0.87[ASN][1000 genomes]
rs11742166	0.87[ASN][1000 genomes]
rs11742452	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11955303	0.99[EUR][1000 genomes]
rs12153161	0.87[ASN][1000 genomes]
rs12523268	0.96[EUR][1000 genomes]
rs12652614	0.87[ASN][1000 genomes]
rs12654403	0.99[EUR][1000 genomes]
rs13157214	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13161204	0.87[ASN][1000 genomes]
rs13162397	0.89[EUR][1000 genomes]
rs13166729	0.98[EUR][1000 genomes]
rs13176491	0.99[EUR][1000 genomes]
rs13177213	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13177900	0.87[ASN][1000 genomes]
rs13183265	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13184846	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13185021	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13186318	0.98[EUR][1000 genomes]
rs1476831	0.87[ASN][1000 genomes]
rs1476832	0.87[ASN][1000 genomes]
rs1558367	0.96[EUR][1000 genomes]
rs1860575	0.99[EUR][1000 genomes]
rs2041401	0.99[EUR][1000 genomes]
rs2041402	0.99[EUR][1000 genomes]
rs2041403	0.99[EUR][1000 genomes]
rs2041677	0.87[EUR][1000 genomes]
rs2191447	0.99[EUR][1000 genomes]
rs2191449	0.87[ASN][1000 genomes]
rs2215418	0.99[EUR][1000 genomes]
rs2215421	0.87[ASN][1000 genomes]
rs2408845	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2408847	0.88[EUR][1000 genomes]
rs2408848	0.98[EUR][1000 genomes]
rs4141128	0.87[ASN][1000 genomes]
rs4141129	0.86[EUR][1000 genomes]
rs4699909	0.87[ASN][1000 genomes]
rs4700210	0.87[ASN][1000 genomes]
rs4700211	0.85[ASN][1000 genomes]
rs4700212	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4700213	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4700215	0.98[EUR][1000 genomes]
rs4700217	0.88[EUR][1000 genomes]
rs6860385	0.99[EUR][1000 genomes]
rs6872973	0.99[EUR][1000 genomes]
rs6885246	0.99[EUR][1000 genomes]
rs7711714	0.99[EUR][1000 genomes]
rs7714534	0.87[ASN][1000 genomes]
rs7719947	0.85[ASN][1000 genomes]
rs7725863	0.99[EUR][1000 genomes]
rs7726116	0.99[EUR][1000 genomes]
rs887503	0.87[ASN][1000 genomes]
rs9292141	0.86[EUR][1000 genomes]
rs978225	0.99[EUR][1000 genomes]
rs984529	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv525330	chr5:56931673-57320343	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	esv2756302	chr5:56978143-57180143	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv830310	chr5:56989346-57176006	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:56990200-57005600	Weak transcription	NH-A	brain
2	chr5:56992400-57004400	Weak transcription	Left Ventricle	heart
3	chr5:56996400-57001000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr5:56996600-57001000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr5:56996800-57005400	Weak transcription	Fetal Lung	lung
6	chr5:56999600-57001200	Enhancers	NHEK	skin
7	chr5:57000400-57001000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr5:57000600-57001800	Enhancers	HUVEC	blood vessel

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