Variant report

Variant	rs12067990
Chromosome Location	chr1:71342019-71342020
allele	C/T
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:14)

rs_ID	r²[population]
rs10889894	1.00[AMR][1000 genomes]
rs11209674	1.00[AMR][1000 genomes]
rs11209676	1.00[AMR][1000 genomes]
rs11799545	1.00[AMR][1000 genomes]
rs11809656	1.00[AMR][1000 genomes]
rs12058457	1.00[AMR][1000 genomes]
rs12058470	1.00[AMR][1000 genomes]
rs12061298	1.00[AMR][1000 genomes]
rs12063164	1.00[AMR][1000 genomes]
rs12067572	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12073536	1.00[AMR][1000 genomes]
rs17131475	1.00[EUR][1000 genomes]
rs2068651	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6699994	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1845198	chr1:71274759-71514969	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv830148	chr1:71310366-71483932	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 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	chr1:71330800-71343200	Weak transcription	K562	blood
2	chr1:71341400-71347800	Weak transcription	Aorta	Aorta
3	chr1:71341800-71345800	Weak transcription	Adipose Nuclei	Adipose

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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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