Variant report

Variant	rs6876597
Chromosome Location	chr5:127914747-127914748
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 223 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:221)

rs_ID	r²[population]
rs10428533	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10428593	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10520003	1.00[ASN][1000 genomes]
rs11241962	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11241964	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11241965	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11948376	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11948920	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11949017	1.00[ASN][1000 genomes]
rs11949649	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11949660	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11949692	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11950568	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11950625	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11951267	1.00[ASN][1000 genomes]
rs11952247	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11952334	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11952524	1.00[ASN][1000 genomes]
rs11952602	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11953201	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11954034	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11954070	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11954906	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11955937	1.00[ASN][1000 genomes]
rs11956467	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11956495	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11957248	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11957280	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11957487	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11958376	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11958508	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11958996	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11959560	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12109254	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13153799	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13153812	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13154414	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13158744	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13160701	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13162214	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13165572	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13167932	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13168271	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13168624	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13172385	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13173782	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13179269	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13181957	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13186444	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1363468	0.89[EUR][1000 genomes]
rs1435512	1.00[ASN][1000 genomes]
rs17164083	1.00[ASN][1000 genomes]
rs17164086	1.00[ASN][1000 genomes]
rs17615636	1.00[ASN][1000 genomes]
rs17677244	1.00[ASN][1000 genomes]
rs34012094	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34139509	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34615740	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34665677	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34881645	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34912177	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs34968180	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35024105	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35043622	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35454462	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35544771	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs36003105	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36052309	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36071106	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36125852	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3924302	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4133248	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4298299	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4305681	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4318822	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4323274	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4339399	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4345355	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4365880	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4377749	0.90[EUR][1000 genomes]
rs4380709	1.00[ASN][1000 genomes]
rs4386769	1.00[ASN][1000 genomes]
rs4410683	1.00[ASN][1000 genomes]
rs4418144	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4425555	1.00[ASN][1000 genomes]
rs4425556	1.00[ASN][1000 genomes]
rs4455613	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4455614	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4493715	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4496752	1.00[ASN][1000 genomes]
rs4521535	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4557470	1.00[ASN][1000 genomes]
rs4577751	1.00[ASN][1000 genomes]
rs4580821	1.00[ASN][1000 genomes]
rs4582335	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4587123	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4608977	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4620068	1.00[ASN][1000 genomes]
rs4626373	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4628037	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4628038	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4634399	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4836374	1.00[ASN][1000 genomes]
rs55657505	1.00[ASN][1000 genomes]
rs55683423	1.00[ASN][1000 genomes]
rs55715053	1.00[ASN][1000 genomes]
rs55770077	1.00[ASN][1000 genomes]
rs55791343	1.00[ASN][1000 genomes]
rs55839668	1.00[ASN][1000 genomes]
rs55944506	1.00[ASN][1000 genomes]
rs56018106	1.00[ASN][1000 genomes]
rs56072924	1.00[ASN][1000 genomes]
rs56173634	1.00[ASN][1000 genomes]
rs56232757	1.00[ASN][1000 genomes]
rs56766733	1.00[ASN][1000 genomes]
rs57454105	1.00[ASN][1000 genomes]
rs58143160	1.00[ASN][1000 genomes]
rs58295967	1.00[ASN][1000 genomes]
rs58955919	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59143127	1.00[ASN][1000 genomes]
rs59567527	1.00[ASN][1000 genomes]
rs60324229	1.00[ASN][1000 genomes]
rs60574263	1.00[ASN][1000 genomes]
rs61358597	1.00[ASN][1000 genomes]
rs61375240	1.00[ASN][1000 genomes]
rs62390696	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62390702	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs62390705	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62390715	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62390716	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62390718	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62390719	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62390724	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62390725	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62390726	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6595840	1.00[ASN][1000 genomes]
rs66899065	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67031953	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs67539441	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67941180	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6863062	1.00[ASN][1000 genomes]
rs6863262	1.00[ASN][1000 genomes]
rs6863380	1.00[ASN][1000 genomes]
rs6863460	1.00[ASN][1000 genomes]
rs6864449	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6865828	1.00[ASN][1000 genomes]
rs6870737	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6870746	1.00[ASN][1000 genomes]
rs6871698	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6875600	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6876609	1.00[ASN][1000 genomes]
rs6877748	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6877872	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6877956	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6878062	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6878172	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6880762	1.00[ASN][1000 genomes]
rs6885752	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6886451	1.00[ASN][1000 genomes]
rs6891153	1.00[ASN][1000 genomes]
rs6891166	1.00[ASN][1000 genomes]
rs6892406	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6897170	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6898190	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71587985	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73334912	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73346354	1.00[ASN][1000 genomes]
rs73348066	1.00[ASN][1000 genomes]
rs73348070	1.00[ASN][1000 genomes]
rs73348077	1.00[ASN][1000 genomes]
rs73348078	1.00[ASN][1000 genomes]
rs73348080	1.00[ASN][1000 genomes]
rs73348085	1.00[ASN][1000 genomes]
rs73348087	1.00[ASN][1000 genomes]
rs73348099	1.00[ASN][1000 genomes]
rs73348102	1.00[ASN][1000 genomes]
rs73348278	1.00[ASN][1000 genomes]
rs73348280	1.00[ASN][1000 genomes]
rs73348283	1.00[ASN][1000 genomes]
rs73348287	1.00[ASN][1000 genomes]
rs73348295	1.00[ASN][1000 genomes]
rs73348296	1.00[ASN][1000 genomes]
rs73348299	1.00[ASN][1000 genomes]
rs73350106	1.00[ASN][1000 genomes]
rs73350109	1.00[ASN][1000 genomes]
rs73350115	1.00[ASN][1000 genomes]
rs73350129	1.00[ASN][1000 genomes]
rs73350134	1.00[ASN][1000 genomes]
rs73350195	1.00[ASN][1000 genomes]
rs73352205	1.00[ASN][1000 genomes]
rs73352207	1.00[ASN][1000 genomes]
rs73352225	1.00[ASN][1000 genomes]
rs7443826	1.00[ASN][1000 genomes]
rs7446246	1.00[ASN][1000 genomes]
rs7446359	1.00[ASN][1000 genomes]
rs7447218	1.00[ASN][1000 genomes]
rs764369	1.00[ASN][1000 genomes]
rs7704921	1.00[ASN][1000 genomes]
rs7709202	1.00[ASN][1000 genomes]
rs7709476	1.00[ASN][1000 genomes]
rs7709582	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7709634	1.00[ASN][1000 genomes]
rs7712769	1.00[ASN][1000 genomes]
rs7714023	1.00[ASN][1000 genomes]
rs7714465	1.00[ASN][1000 genomes]
rs7714623	1.00[ASN][1000 genomes]
rs7715766	0.89[EUR][1000 genomes]
rs7720190	1.00[ASN][1000 genomes]
rs7724233	1.00[ASN][1000 genomes]
rs7724383	1.00[ASN][1000 genomes]
rs7725452	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7725949	1.00[ASN][1000 genomes]
rs7727413	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7728360	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7728409	1.00[ASN][1000 genomes]
rs7730875	1.00[ASN][1000 genomes]
rs7732171	1.00[ASN][1000 genomes]
rs7734405	1.00[ASN][1000 genomes]
rs7734534	1.00[ASN][1000 genomes]
rs7735831	1.00[ASN][1000 genomes]
rs892864	1.00[ASN][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	nsv531991	chr5:127624564-127966085	Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	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

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs6876597	FBN2	cis	lung	GTEx
rs6876597	FBN2	cis	Nerve Tibial	GTEx
rs6876597	FBN2	cis	Artery Tibial	GTEx
rs6876597	FBN2	cis	Adipose Subcutaneous	GTEx
rs6876597	FBN2	cis	Thyroid	GTEx
rs6876597	FBN2	cis	Whole Blood	GTEx

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127910600-127915400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr5:127913800-127915800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr5:127914000-127914800	Enhancers	Placenta	Placenta
4	chr5:127914000-127915200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr5:127914000-127915600	Enhancers	Placenta Amnion	Placenta Amnion
6	chr5:127914000-127915800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr5:127914000-127916000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr5:127914000-127916000	Enhancers	HMEC	breast
9	chr5:127914000-127916000	Enhancers	NHEK	skin
10	chr5:127914200-127914800	Flanking Active TSS	Hela-S3	cervix
11	chr5:127914200-127915600	Flanking Active TSS	A549	lung
12	chr5:127914400-127915800	Enhancers	HSMM	muscle
13	chr5:127914400-127915800	Enhancers	Osteobl	bone
14	chr5:127914400-127916200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr5:127914600-127914800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
16	chr5:127914600-127915000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr5:127914600-127915400	Weak transcription	NH-A	brain
18	chr5:127914600-127922600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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