Variant report

Variant	rs12135685
Chromosome Location	chr1:193818585-193818586
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12119490	0.84[AMR][1000 genomes]
rs12120678	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12125008	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12125561	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12136700	0.84[AMR][1000 genomes]
rs12137476	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12140410	0.83[EUR][1000 genomes]
rs12142903	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12742918	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2370579	0.93[EUR][1000 genomes]
rs34942491	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs67572620	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs68114912	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008266	chr1:193550185-194481053	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	esv3372415	chr1:193612172-193988265	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv872832	chr1:193661626-193850407	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:193817200-193820000	Weak transcription	Fetal Lung	lung
2	chr1:193818200-193818800	Enhancers	NHEK	skin

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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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