Variant report

Variant	rs11993657
Chromosome Location	chr8:58894539-58894540
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs16922840	0.81[AMR][1000 genomes]
rs16922841	0.81[AMR][1000 genomes]
rs16922852	0.90[AMR][1000 genomes]
rs4567024	0.90[AMR][1000 genomes]
rs55848334	0.90[AMR][1000 genomes]
rs56376843	0.90[AMR][1000 genomes]
rs57845169	0.81[AMR][1000 genomes]
rs59030723	0.81[AMR][1000 genomes]
rs59299876	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60011085	0.81[AMR][1000 genomes]
rs60099745	0.81[AMR][1000 genomes]
rs60642699	0.81[AMR][1000 genomes]
rs6471666	0.90[AMR][1000 genomes]
rs6471668	0.90[AMR][1000 genomes]
rs6471669	0.90[AMR][1000 genomes]
rs6986794	0.90[AMR][1000 genomes]
rs6987258	1.00[MEX][hapmap];0.90[AMR][1000 genomes]
rs6987842	1.00[MEX][hapmap];0.81[AMR][1000 genomes]
rs6994421	0.90[AMR][1000 genomes]
rs7002386	0.90[AMR][1000 genomes]
rs73248740	0.81[AMR][1000 genomes]
rs73248754	0.90[AMR][1000 genomes]
rs73250478	0.90[AMR][1000 genomes]
rs73683818	0.81[AMR][1000 genomes]
rs7820265	0.90[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831324	chr8:58844151-59045309	Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 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	chr8:58888200-58896600	Weak transcription	NHDF-Ad	bronchial
2	chr8:58894000-58898600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr8:58894000-58906600	Weak transcription	Right Atrium	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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