Variant report

Variant	rs454528
Chromosome Location	chr5:68440752-68440753
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1086000	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1086001	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs163190	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs164385	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs164565	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs164567	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs164568	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs164706	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2617403	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2637143	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs337254	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs338682	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs338683	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs338685	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs338686	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs350097	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs351426	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs367245	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs645089	0.92[AMR][1000 genomes];0.89[EUR][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	nsv1018151	chr5:68377118-68667581	Enhancers Active TSS Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv881765	chr5:68379836-68448694	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv881766	chr5:68401941-68448694	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1035004	chr5:68405526-68670101	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
5	esv3378789	chr5:68438275-68540725	Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 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	chr5:68416400-68445000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:68421600-68447000	Weak transcription	Ovary	ovary
3	chr5:68440200-68441200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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