Variant report

Variant	rs2123405
Chromosome Location	chr8:78110293-78110294
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10112891	0.85[EUR][1000 genomes]
rs10113289	0.85[EUR][1000 genomes]
rs12543187	0.85[EUR][1000 genomes]
rs12545842	0.85[EUR][1000 genomes]
rs28534373	0.96[ASN][1000 genomes]
rs57620618	0.84[EUR][1000 genomes]
rs6980885	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6995053	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6998668	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7014996	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[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	nsv891045	chr8:77998659-78477561	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1029314	chr8:78107849-78129934	Weak transcription Enhancers	n/a	n/a	inside rSNPs	n/a
3	esv2756011	chr8:78108034-78160132	Enhancers Weak transcription	n/a	n/a	inside rSNPs	n/a
4	nsv982102	chr8:78108662-78112004	Enhancers	n/a	n/a	inside rSNPs	n/a

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:78108600-78110400	Enhancers	Muscle Satellite Cultured Cells	--
2	chr8:78108800-78111200	Enhancers	Fetal Heart	heart

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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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