Variant report

Variant	rs6596727
Chromosome Location	chr5:97674389-97674390
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10035546	0.83[EUR][1000 genomes]
rs10036788	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10036839	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10050404	1.00[CEU][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10050543	0.83[EUR][1000 genomes]
rs10054643	0.96[EUR][1000 genomes]
rs10073933	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs10074663	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11950953	0.96[EUR][1000 genomes]
rs11953877	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11953894	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11954911	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11955115	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11955987	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11959995	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs12516014	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[TSI][hapmap]
rs13436010	0.87[ASN][1000 genomes]
rs1378443	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1378445	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1455424	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1455425	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1455426	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap]
rs17165878	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2368550	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4703354	0.83[EUR][1000 genomes]
rs59423561	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs60702807	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61740530	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62369875	0.87[EUR][1000 genomes]
rs6594645	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap]
rs6594647	1.00[CEU][hapmap]
rs6596729	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6596743	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6596748	0.96[EUR][1000 genomes]
rs6862206	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6863762	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6870895	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs6871138	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6872708	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs6872831	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6877032	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6882939	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6885408	1.00[CHB][hapmap]
rs6885953	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6887168	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6889222	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6890493	0.83[EUR][1000 genomes]
rs73159220	0.96[EUR][1000 genomes]
rs73159222	0.96[EUR][1000 genomes]
rs73159223	0.96[EUR][1000 genomes]
rs73159226	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7714163	0.88[AMR][1000 genomes]
rs7715004	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs7718848	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7728104	1.00[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	nsv882407	chr5:97553255-97783046	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv882408	chr5:97616089-97836794	Enhancers Strong transcription ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv830419	chr5:97653713-97829079	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	esv1831511	chr5:97666860-97678414	Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Strong transcription	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
5	esv1803610	chr5:97670855-97678414	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island	1 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	chr5:97672400-97674400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr5:97672800-97676400	Weak transcription	Osteobl	bone
3	chr5:97673600-97676800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr5:97674000-97674800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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