Variant report

Variant	rs7499077
Chromosome Location	chr16:31317505-31317506
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:31313279..31315111-chr16:31315474..31317506,2	MCF-7	breast:

Extended variants
information (count: 37 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11150615	1.00[CHB][hapmap]
rs1143678	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs1143683	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs11574636	1.00[CHB][hapmap]
rs11574637	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs11860650	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs11863592	0.93[AMR][1000 genomes]
rs12918549	1.00[ASN][1000 genomes]
rs12928810	1.00[CHB][hapmap]
rs12930660	1.00[ASN][1000 genomes]
rs13338069	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs2230428	1.00[ASN][1000 genomes]
rs34072967	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34594027	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34927056	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35466388	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41477949	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4548893	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs4632147	1.00[CHB][hapmap]
rs6565228	1.00[CHB][hapmap]
rs7184677	1.00[CHB][hapmap]
rs7190018	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs7190807	1.00[CHB][hapmap]
rs7193268	1.00[CHB][hapmap]
rs8061729	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9746394	0.92[AMR][1000 genomes]
rs9888739	1.00[CHD][hapmap]
rs9888879	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs9925985	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9933520	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs9937837	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9938063	1.00[CHB][hapmap];1.00[CHD][hapmap]

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

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7499077	FUS	cis	cerebellum	SCAN
rs7499077	STX1B	cis	cerebellum	SCAN
rs7499077	TBX6	cis	parietal	SCAN

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	chr16:31315200-31317800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr16:31316600-31318000	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr16:31316600-31318200	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr16:31317200-31323000	Weak transcription	Primary neutrophils fromperipheralblood	blood

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