Variant report

Variant	rs11993928
Chromosome Location	chr8:69721208-69721209
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10087916	1.00[ASN][1000 genomes]
rs10096163	1.00[ASN][1000 genomes]
rs10101154	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs10102823	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs10103145	1.00[ASN][1000 genomes]
rs10282983	1.00[ASN][1000 genomes]
rs10504430	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs10504431	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11989456	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11991238	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11991242	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12541228	1.00[ASN][1000 genomes]
rs12543555	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12543778	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12544468	1.00[CHB][hapmap]
rs12544474	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12545316	1.00[CHB][hapmap]
rs12549215	1.00[ASN][1000 genomes]
rs12550386	1.00[ASN][1000 genomes]
rs16919100	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs16934882	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs16934890	1.00[CHB][hapmap]
rs16934967	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17386888	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17387279	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17389337	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17478857	1.00[CHB][hapmap]
rs1865442	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2117491	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2164198	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2164199	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs35013559	1.00[ASN][1000 genomes]
rs4326370	1.00[ASN][1000 genomes]
rs55915240	1.00[ASN][1000 genomes]
rs56064105	1.00[ASN][1000 genomes]
rs56372923	1.00[ASN][1000 genomes]
rs57486369	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59328859	1.00[ASN][1000 genomes]
rs59959493	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60851352	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6982162	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7000878	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7009165	1.00[ASN][1000 genomes]
rs7011624	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7012824	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs72666766	1.00[ASN][1000 genomes]
rs72666772	1.00[ASN][1000 genomes]
rs72666774	1.00[ASN][1000 genomes]
rs72666780	1.00[ASN][1000 genomes]
rs72666790	1.00[ASN][1000 genomes]
rs72666796	1.00[ASN][1000 genomes]
rs72666799	1.00[ASN][1000 genomes]
rs72668503	1.00[ASN][1000 genomes]
rs72668504	1.00[ASN][1000 genomes]
rs73283854	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7812576	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7845052	1.00[ASN][1000 genomes]
rs7846438	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7846688	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs9298135	1.00[CHB][hapmap]
rs974335	1.00[CHB][hapmap];1.00[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	nsv831349	chr8:69555461-69733515	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv465703	chr8:69641287-69814578	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv611462	chr8:69641287-69814578	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1017131	chr8:69676989-69792515	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:69715000-69722400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:69719600-69721400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr8:69720400-69722000	Weak transcription	Fetal Lung	lung

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