Variant report

Variant	rs318839
Chromosome Location	chr5:41368909-41368910
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 62 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10044440	0.85[ASN][1000 genomes]
rs10053633	0.89[ASN][1000 genomes]
rs10055126	0.89[ASN][1000 genomes]
rs10068649	0.94[ASN][1000 genomes]
rs10071445	0.88[ASN][1000 genomes]
rs10078334	0.88[ASN][1000 genomes]
rs1037690	0.88[ASN][1000 genomes]
rs10805659	0.84[ASN][1000 genomes]
rs11739553	0.80[EUR][1000 genomes]
rs13166710	0.95[ASN][1000 genomes]
rs1350299	0.85[ASN][1000 genomes]
rs1380996	0.89[ASN][1000 genomes]
rs1460955	0.90[ASN][1000 genomes]
rs160966	0.95[ASN][1000 genomes]
rs161086	0.91[ASN][1000 genomes]
rs161087	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1645060	0.94[ASN][1000 genomes]
rs167627	0.88[ASN][1000 genomes]
rs167628	0.94[ASN][1000 genomes]
rs1822820	0.80[EUR][1000 genomes]
rs223080	0.97[ASN][1000 genomes]
rs2925731	0.87[ASN][1000 genomes]
rs318836	0.95[ASN][1000 genomes]
rs318837	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs318838	0.97[ASN][1000 genomes]
rs318840	0.95[ASN][1000 genomes]
rs318841	0.97[ASN][1000 genomes]
rs318842	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs318843	0.95[ASN][1000 genomes]
rs318844	0.95[ASN][1000 genomes]
rs318845	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs318846	0.88[ASN][1000 genomes]
rs318847	0.94[ASN][1000 genomes]
rs318849	0.88[ASN][1000 genomes]
rs319013	0.89[ASN][1000 genomes]
rs319014	0.88[ASN][1000 genomes]
rs319015	0.86[ASN][1000 genomes]
rs320622	0.97[ASN][1000 genomes]
rs4051076	0.89[ASN][1000 genomes]
rs4380706	0.94[ASN][1000 genomes]
rs4380707	0.91[ASN][1000 genomes]
rs4383755	0.94[ASN][1000 genomes]
rs4403222	0.90[ASN][1000 genomes]
rs4438921	0.89[ASN][1000 genomes]
rs4557464	0.90[ASN][1000 genomes]
rs4559042	0.94[ASN][1000 genomes]
rs545358	0.94[ASN][1000 genomes]
rs60917374	0.81[EUR][1000 genomes]
rs6859578	0.94[ASN][1000 genomes]
rs6872806	0.81[EUR][1000 genomes]
rs6898606	0.81[EUR][1000 genomes]
rs730354	0.90[ASN][1000 genomes]
rs7713441	0.91[ASN][1000 genomes]
rs7718012	0.89[ASN][1000 genomes]
rs7722338	0.94[ASN][1000 genomes]
rs921946	0.86[ASN][1000 genomes]
rs9292806	0.85[ASN][1000 genomes]
rs9654393	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427717	chr5:41201377-41369202	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv830269	chr5:41209113-41393536	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	esv1851387	chr5:41336050-41423631	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv1024631	chr5:41341979-41427953	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:41350200-41370000	Weak transcription	Ovary	ovary
2	chr5:41357400-41371400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr5:41361400-41370800	Weak transcription	Right Ventricle	heart
4	chr5:41364600-41371600	Weak transcription	Left Ventricle	heart
5	chr5:41367200-41371200	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr5:41368000-41372800	Enhancers	Fetal Heart	heart
7	chr5:41368600-41369600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr5:41368800-41371400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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