Variant report

Variant	rs57483806
Chromosome Location	chr16:31323784-31323785
allele	A/G
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:14)

rs_ID	r²[population]
rs36018996	1.00[AMR][1000 genomes]
rs41371846	1.00[AMR][1000 genomes]
rs41520646	1.00[AMR][1000 genomes]
rs56751167	1.00[AMR][1000 genomes]
rs58114676	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61417139	1.00[AMR][1000 genomes]
rs61746400	1.00[AMR][1000 genomes]
rs74015064	1.00[AMR][1000 genomes]
rs74015067	1.00[AMR][1000 genomes]
rs74015073	1.00[AMR][1000 genomes]
rs74015088	1.00[AMR][1000 genomes]
rs74015098	1.00[AMR][1000 genomes]
rs74015100	1.00[AMR][1000 genomes]
rs74015554	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431451	chr16:30682399-31340999	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	350 gene(s)	inside rSNPs	diseases
2	nsv1059459	chr16:31299088-31462251	Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	nsv542901	chr16:31299088-31462251	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
4	esv1817837	chr16:31301125-31331958	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
5	esv3392534	chr16:31303038-31573066	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	104 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31310200-31326800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr16:31318000-31323800	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr16:31323000-31324800	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr16:31323000-31344600	Strong transcription	Primary neutrophils fromperipheralblood	blood
5	chr16:31323600-31325000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

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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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