Variant report

Variant	rs12543396
Chromosome Location	chr8:52099253-52099254
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10088522	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13256393	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13260249	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13267688	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1437602	0.89[EUR][1000 genomes]
rs16915832	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1866099	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1866100	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2028157	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28692584	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28757734	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28884915	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2893625	0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs36039089	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4873186	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4873513	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4873514	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4873515	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4873516	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6473591	0.92[EUR][1000 genomes]
rs7013051	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7013581	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7462308	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7845227	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs893308	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs984408	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932026	chr8:51858658-52758574	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	esv2764079	chr8:51881783-52202880	Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv465679	chr8:51883927-52189796	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv611350	chr8:51883927-52189796	Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1030378	chr8:51892949-52191830	Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv1031155	chr8:51907530-52173218	Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv948338	chr8:52060314-52368754	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:52089600-52100800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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