Variant report

Variant	rs16991283
Chromosome Location	chr21:17302065-17302066
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11908733	1.00[AMR][1000 genomes]
rs11909513	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11910291	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11910940	1.00[AMR][1000 genomes]
rs11911155	1.00[AMR][1000 genomes]
rs16990045	0.86[AFR][1000 genomes]
rs16990721	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16990739	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16990800	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58865638	0.86[AFR][1000 genomes]
rs60305922	1.00[AMR][1000 genomes]
rs61664470	0.89[AFR][1000 genomes]
rs7278387	1.00[AMR][1000 genomes]
rs7279840	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73355473	1.00[AMR][1000 genomes]
rs73355475	1.00[AMR][1000 genomes]
rs73355491	1.00[AMR][1000 genomes]
rs8133076	1.00[AFR][1000 genomes];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	nsv834050	chr21:17146090-17348951	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
2	nsv964543	chr21:17296262-17338385	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17300400-17302200	Enhancers	HSMM	muscle
2	chr21:17300600-17302400	Enhancers	HSMMtube	muscle
3	chr21:17300600-17305800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr21:17300800-17303400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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