Variant report

Variant	rs6992320
Chromosome Location	chr8:52180714-52180715
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10093325	1.00[AMR][1000 genomes]
rs10099947	1.00[AMR][1000 genomes]
rs10282900	1.00[AMR][1000 genomes]
rs58500515	1.00[AMR][1000 genomes]
rs58535627	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59313662	1.00[AMR][1000 genomes]
rs59625467	1.00[AMR][1000 genomes]
rs59774513	1.00[AMR][1000 genomes]
rs59882925	1.00[AMR][1000 genomes]
rs60820519	1.00[AMR][1000 genomes]
rs60902678	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61134940	1.00[AMR][1000 genomes]
rs61305961	1.00[AMR][1000 genomes]
rs61443409	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6989113	1.00[AMR][1000 genomes]
rs6990005	1.00[AMR][1000 genomes]
rs7011456	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73571924	1.00[AMR][1000 genomes]
rs73573815	1.00[AMR][1000 genomes]
rs73573886	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73573893	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73573897	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73573901	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73577617	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73577619	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73577620	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73577621	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73577623	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73577678	1.00[AMR][1000 genomes]
rs73577680	1.00[AMR][1000 genomes]
rs73577701	1.00[AMR][1000 genomes]
rs73579639	1.00[AMR][1000 genomes]
rs73579644	1.00[AMR][1000 genomes]
rs73579645	1.00[AMR][1000 genomes]
rs73579656	1.00[AMR][1000 genomes]
rs73579662	1.00[AMR][1000 genomes]
rs73579671	1.00[AMR][1000 genomes]
rs73579673	1.00[AMR][1000 genomes]
rs73579675	1.00[AMR][1000 genomes]
rs73579680	1.00[AMR][1000 genomes]
rs73579682	1.00[AMR][1000 genomes]
rs73579687	1.00[AMR][1000 genomes]
rs7832682	1.00[AMR][1000 genomes]
rs9785122	1.00[AMR][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	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
7	nsv6189	chr8:52145834-52191132	Weak transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region lncRNA	2 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	chr8:52180400-52181800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr8:52180400-52189400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:52180600-52181000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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