Variant report

Variant	rs16993988
Chromosome Location	chr21:17507818-17507819
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs16993244	0.90[YRI][hapmap]
rs16993384	1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs16993387	1.00[AMR][1000 genomes]
rs16993393	1.00[AMR][1000 genomes]
rs16993394	1.00[AMR][1000 genomes]
rs16993505	1.00[ASW][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[AMR][1000 genomes]
rs16993558	1.00[ASW][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs57469115	1.00[AMR][1000 genomes]
rs57936518	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58529486	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59631437	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60167288	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60300181	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs881073	1.00[ASW][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs881074	1.00[AMR][1000 genomes]
rs881076	0.85[AFR][1000 genomes];1.00[AMR][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	nsv1066951	chr21:17458978-17603160	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv544381	chr21:17458978-17603160	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	esv3398505	chr21:17499130-17527355	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Active TSS	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:0 , 50 per page) page:

No data

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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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