Variant report

Variant	rs318841
Chromosome Location	chr5:41370765-41370766
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 59 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10044440	0.88[ASN][1000 genomes]
rs10053633	0.92[ASN][1000 genomes]
rs10055126	0.92[ASN][1000 genomes]
rs10068649	0.91[ASN][1000 genomes]
rs10071445	0.90[ASN][1000 genomes]
rs10078334	1.00[CHB][hapmap];0.82[CHD][hapmap];0.86[GIH][hapmap];0.83[JPT][hapmap];0.93[YRI][hapmap];0.90[ASN][1000 genomes]
rs1037690	0.90[CEU][hapmap];1.00[CHB][hapmap];0.82[CHD][hapmap];0.87[JPT][hapmap];0.95[MEX][hapmap];0.81[TSI][hapmap];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10805659	1.00[CHB][hapmap];0.83[JPT][hapmap];0.87[ASN][1000 genomes]
rs13166710	0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1350299	1.00[CHB][hapmap];0.83[JPT][hapmap];0.88[ASN][1000 genomes]
rs1380996	1.00[CHB][hapmap];0.82[CHD][hapmap];0.86[GIH][hapmap];0.82[JPT][hapmap];0.92[ASN][1000 genomes]
rs1460955	1.00[CHB][hapmap];0.83[JPT][hapmap];0.89[YRI][hapmap];0.93[ASN][1000 genomes]
rs160966	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs161086	0.89[CHB][hapmap];0.91[JPT][hapmap];0.89[ASN][1000 genomes]
rs161087	0.97[ASN][1000 genomes]
rs1645060	1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs167627	0.90[ASN][1000 genomes]
rs167628	1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs223080	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2925729	0.84[CHB][hapmap];0.91[JPT][hapmap]
rs2925731	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs318836	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.93[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs318837	1.00[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.97[ASN][1000 genomes]
rs318838	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs318839	0.97[ASN][1000 genomes]
rs318840	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs318842	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs318843	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs318844	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs318845	1.00[CHB][hapmap];0.90[CHD][hapmap];0.86[GIH][hapmap];0.91[JPT][hapmap];0.92[ASN][1000 genomes]
rs318846	1.00[CHB][hapmap];0.91[JPT][hapmap];0.91[ASN][1000 genomes]
rs318847	0.94[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs318849	0.85[ASN][1000 genomes]
rs319013	1.00[CHB][hapmap];0.82[CHD][hapmap];0.86[GIH][hapmap];0.83[JPT][hapmap];0.82[MEX][hapmap];0.93[YRI][hapmap];0.92[ASN][1000 genomes]
rs319014	1.00[CHB][hapmap];0.83[JPT][hapmap];0.93[YRI][hapmap];0.90[ASN][1000 genomes]
rs319015	0.89[ASN][1000 genomes]
rs320622	0.95[ASN][1000 genomes]
rs320623	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4051076	0.92[ASN][1000 genomes]
rs4380706	0.91[ASN][1000 genomes]
rs4380707	1.00[CHB][hapmap];0.82[CHD][hapmap];0.91[JPT][hapmap];0.88[ASN][1000 genomes]
rs4383755	0.91[ASN][1000 genomes]
rs4403222	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs4438921	0.92[ASN][1000 genomes]
rs4557464	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs4559042	0.91[ASN][1000 genomes]
rs545358	0.91[ASN][1000 genomes]
rs6859578	1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs730354	1.00[CHB][hapmap];0.87[CHD][hapmap];0.92[ASN][1000 genomes]
rs7700406	1.00[CHB][hapmap];0.82[YRI][hapmap];0.82[ASN][1000 genomes]
rs7713441	0.88[ASN][1000 genomes]
rs7718012	0.92[ASN][1000 genomes]
rs7722338	0.91[ASN][1000 genomes]
rs921946	0.95[CHB][hapmap];0.88[ASN][1000 genomes]
rs9292806	1.00[CHB][hapmap];0.83[JPT][hapmap];0.88[ASN][1000 genomes]
rs9654393	1.00[CHB][hapmap];0.83[JPT][hapmap];0.88[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	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
2	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
3	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs318841	OSMR	cis	parietal	SCAN
rs318841	SEPP1	cis	parietal	SCAN

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:41357400-41371400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:41361400-41370800	Weak transcription	Right Ventricle	heart
3	chr5:41364600-41371600	Weak transcription	Left Ventricle	heart
4	chr5:41367200-41371200	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr5:41368000-41372800	Enhancers	Fetal Heart	heart
6	chr5:41368800-41371400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr5:41369800-41371400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr5:41369800-41371400	Weak transcription	Right Atrium	heart
9	chr5:41370000-41372000	Enhancers	Ovary	ovary

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