Variant report

Variant	rs7715766
Chromosome Location	chr5:128002118-128002119
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 141 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:137)

rs_ID	r²[population]
rs10428533	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10428593	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10520003	1.00[JPT][hapmap]
rs11241962	0.88[EUR][1000 genomes]
rs11241964	0.86[EUR][1000 genomes]
rs11241965	0.88[EUR][1000 genomes]
rs11948376	0.89[EUR][1000 genomes]
rs11948920	0.86[EUR][1000 genomes]
rs11949017	1.00[JPT][hapmap]
rs11949649	0.88[EUR][1000 genomes]
rs11949660	0.88[EUR][1000 genomes]
rs11949692	0.88[EUR][1000 genomes]
rs11950568	0.89[EUR][1000 genomes]
rs11950625	0.89[EUR][1000 genomes]
rs11952247	0.89[EUR][1000 genomes]
rs11952334	0.89[EUR][1000 genomes]
rs11952602	0.89[EUR][1000 genomes]
rs11953201	0.88[EUR][1000 genomes]
rs11954034	0.89[EUR][1000 genomes]
rs11954070	0.89[EUR][1000 genomes]
rs11954906	0.89[EUR][1000 genomes]
rs11956467	0.89[EUR][1000 genomes]
rs11956495	0.89[EUR][1000 genomes]
rs11957248	0.89[EUR][1000 genomes]
rs11957280	0.89[EUR][1000 genomes]
rs11957487	0.89[EUR][1000 genomes]
rs11958376	0.87[EUR][1000 genomes]
rs11958996	0.81[EUR][1000 genomes]
rs11959560	0.89[EUR][1000 genomes]
rs12109254	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13153799	0.85[EUR][1000 genomes]
rs13153812	0.88[EUR][1000 genomes]
rs13154414	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13158744	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13160701	0.89[EUR][1000 genomes]
rs13162214	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13165572	0.94[EUR][1000 genomes]
rs13167932	0.88[EUR][1000 genomes]
rs13168271	0.88[EUR][1000 genomes]
rs13168624	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13172385	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13173782	0.88[EUR][1000 genomes]
rs13179269	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13181957	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13186444	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1363468	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1363469	1.00[ASN][1000 genomes]
rs17164083	1.00[JPT][hapmap]
rs17164086	1.00[JPT][hapmap]
rs34012094	0.87[EUR][1000 genomes]
rs34139509	0.86[EUR][1000 genomes]
rs34615740	0.89[EUR][1000 genomes]
rs34665677	0.89[EUR][1000 genomes]
rs34881645	0.88[EUR][1000 genomes]
rs34912177	1.00[ASN][1000 genomes]
rs34968180	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35024105	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35043622	0.88[EUR][1000 genomes]
rs35454462	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35544771	0.88[EUR][1000 genomes]
rs36003105	0.88[EUR][1000 genomes]
rs36052309	0.89[EUR][1000 genomes]
rs36071106	0.89[EUR][1000 genomes]
rs36125852	0.88[EUR][1000 genomes]
rs3924302	0.89[EUR][1000 genomes]
rs4133248	0.89[EUR][1000 genomes]
rs4298299	0.89[EUR][1000 genomes]
rs4305681	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4318822	0.92[EUR][1000 genomes]
rs4323274	0.89[EUR][1000 genomes]
rs4339399	0.89[EUR][1000 genomes]
rs4345355	0.89[EUR][1000 genomes]
rs4365880	0.89[EUR][1000 genomes]
rs4377749	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4418144	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4455613	0.89[EUR][1000 genomes]
rs4455614	0.89[EUR][1000 genomes]
rs4493715	0.89[EUR][1000 genomes]
rs4493716	1.00[ASN][1000 genomes]
rs4521535	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4582335	0.92[EUR][1000 genomes]
rs4587123	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4608977	0.89[EUR][1000 genomes]
rs4626373	0.89[EUR][1000 genomes]
rs4628037	0.89[EUR][1000 genomes]
rs4628038	0.89[EUR][1000 genomes]
rs4634399	0.89[EUR][1000 genomes]
rs4836374	1.00[JPT][hapmap]
rs55696017	1.00[ASN][1000 genomes]
rs55840580	1.00[ASN][1000 genomes]
rs56358260	1.00[ASN][1000 genomes]
rs58349179	1.00[ASN][1000 genomes]
rs58955919	0.89[EUR][1000 genomes]
rs61081409	1.00[ASN][1000 genomes]
rs62390696	0.82[EUR][1000 genomes]
rs62390702	0.88[EUR][1000 genomes]
rs62390705	0.89[EUR][1000 genomes]
rs62390715	0.89[EUR][1000 genomes]
rs62390716	0.87[EUR][1000 genomes]
rs62390718	0.89[EUR][1000 genomes]
rs62390719	0.89[EUR][1000 genomes]
rs62390724	0.89[EUR][1000 genomes]
rs62390725	0.89[EUR][1000 genomes]
rs62390726	0.88[EUR][1000 genomes]
rs66899065	0.89[EUR][1000 genomes]
rs67031953	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67539441	0.88[EUR][1000 genomes]
rs67941180	0.86[EUR][1000 genomes]
rs6864449	0.87[EUR][1000 genomes]
rs6870737	0.88[EUR][1000 genomes]
rs6871698	0.88[EUR][1000 genomes]
rs6875600	0.89[EUR][1000 genomes]
rs6876597	0.89[EUR][1000 genomes]
rs6877748	0.88[EUR][1000 genomes]
rs6877872	0.88[EUR][1000 genomes]
rs6877956	0.88[EUR][1000 genomes]
rs6878062	0.88[EUR][1000 genomes]
rs6878172	0.88[EUR][1000 genomes]
rs6885752	0.87[EUR][1000 genomes]
rs6891153	1.00[JPT][hapmap]
rs6892406	0.88[EUR][1000 genomes]
rs6897170	0.89[EUR][1000 genomes]
rs6898190	0.89[EUR][1000 genomes]
rs71587985	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73334912	0.88[EUR][1000 genomes]
rs73351861	1.00[ASN][1000 genomes]
rs73351865	1.00[ASN][1000 genomes]
rs73351884	1.00[ASN][1000 genomes]
rs73352737	1.00[ASN][1000 genomes]
rs73352741	1.00[ASN][1000 genomes]
rs764369	1.00[JPT][hapmap]
rs7709582	0.87[EUR][1000 genomes]
rs7725452	0.86[EUR][1000 genomes]
rs7727413	0.89[EUR][1000 genomes]
rs7728360	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs892864	1.00[JPT][hapmap]
rs968008	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427734	chr5:127805281-128088632	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv830484	chr5:127936347-128087308	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1023405	chr5:127955360-128190069	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv882836	chr5:127999225-128136519	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs7715766	FBN2	cis	lung	GTEx
rs7715766	FBN2	cis	Artery Tibial	GTEx
rs7715766	FBN2	cis	Whole Blood	GTEx
rs7715766	FBN2	cis	Adipose Subcutaneous	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:128001400-128002200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr5:128001600-128002200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr5:128001600-128002200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr5:128001800-128002200	Enhancers	HMEC	breast

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