Variant report

Variant	rs4706057
Chromosome Location	chr6:79221845-79221846
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10943541	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10943546	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11751000	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11751048	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11753492	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11753494	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11961184	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11961886	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11962600	0.93[EUR][1000 genomes]
rs12524533	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12525455	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12528056	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12528933	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1321593	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1590226	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4706058	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57804853	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58584672	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58650291	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58786177	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59310741	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59993965	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60533493	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60566783	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs60610368	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60709431	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60962266	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62425506	0.92[EUR][1000 genomes]
rs62425551	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62425553	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62425558	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62425559	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62426460	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62426494	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62426495	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6927990	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6930640	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9294113	0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv886235	chr6:78861808-79369972	Enhancers Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv1018006	chr6:79003806-79228498	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv604011	chr6:79042990-79455282	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv886300	chr6:79129963-79341891	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv522646	chr6:79185106-79333988	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv1028767	chr6:79200713-79341224	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4706057	SH3BGRL2	cis	parietal	SCAN
rs4706057	ELOVL4	cis	parietal	SCAN

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:79213000-79226200	Weak transcription	HUVEC	blood vessel
2	chr6:79219800-79222400	Enhancers	Fetal Brain Male	brain
3	chr6:79221600-79225600	Weak transcription	Fetal Brain Female	brain

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