Variant report

Variant	rs8122299
Chromosome Location	chr20:21889105-21889106
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs13039232	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17861040	1.00[AMR][1000 genomes]
rs17861046	1.00[AMR][1000 genomes]
rs2876613	1.00[AMR][1000 genomes]
rs6047611	1.00[AMR][1000 genomes]
rs6047614	1.00[AMR][1000 genomes]
rs7264084	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7266680	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7270607	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8114193	1.00[AMR][1000 genomes]
rs8118731	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8121350	1.00[AMR][1000 genomes]
rs8122115	0.84[AFR][1000 genomes];1.00[AMR][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	nsv1058137	chr20:21549350-22295051	Weak transcription Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv912814	chr20:21703615-21946928	Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv585714	chr20:21863397-21918447	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	lncRNA	n/a	inside rSNPs	n/a
4	nsv1061217	chr20:21875728-21906483	Weak transcription Enhancers ZNF genes & repeats Active TSS	lncRNA	n/a	inside rSNPs	n/a
5	nsv912815	chr20:21884693-21953649	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:21886400-21889400	Weak transcription	Colon Smooth Muscle	Colon

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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