Variant report

Variant	rs6595840
Chromosome Location	chr5:127887822-127887823
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 202 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:199)

rs_ID	r²[population]
rs10520003	1.00[CEU][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11241962	1.00[ASN][1000 genomes]
rs11241964	1.00[ASN][1000 genomes]
rs11241965	1.00[ASN][1000 genomes]
rs11948376	1.00[ASN][1000 genomes]
rs11948920	1.00[ASN][1000 genomes]
rs11949017	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11949649	1.00[ASN][1000 genomes]
rs11949660	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11949692	1.00[ASN][1000 genomes]
rs11950568	1.00[ASN][1000 genomes]
rs11950625	1.00[ASN][1000 genomes]
rs11951267	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11952247	1.00[ASN][1000 genomes]
rs11952334	1.00[ASN][1000 genomes]
rs11952524	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11952602	1.00[ASN][1000 genomes]
rs11953201	1.00[ASN][1000 genomes]
rs11954034	1.00[ASN][1000 genomes]
rs11954070	1.00[ASN][1000 genomes]
rs11955937	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11956467	1.00[ASN][1000 genomes]
rs11956495	1.00[ASN][1000 genomes]
rs11957280	1.00[ASN][1000 genomes]
rs11957487	1.00[ASN][1000 genomes]
rs11958508	0.80[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11958996	1.00[ASN][1000 genomes]
rs11959560	1.00[ASN][1000 genomes]
rs13153812	1.00[ASN][1000 genomes]
rs13160701	1.00[ASN][1000 genomes]
rs13168271	1.00[ASN][1000 genomes]
rs1363469	0.88[EUR][1000 genomes]
rs1435512	1.00[ASN][1000 genomes]
rs17164083	1.00[CEU][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17164086	1.00[CEU][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17615636	1.00[ASN][1000 genomes]
rs17677244	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs34012094	0.80[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs34139509	1.00[ASN][1000 genomes]
rs34615740	1.00[ASN][1000 genomes]
rs34665677	1.00[ASN][1000 genomes]
rs34881645	1.00[ASN][1000 genomes]
rs35043622	1.00[ASN][1000 genomes]
rs36003105	1.00[ASN][1000 genomes]
rs36052309	1.00[ASN][1000 genomes]
rs36071106	1.00[ASN][1000 genomes]
rs36125852	1.00[ASN][1000 genomes]
rs3924302	1.00[ASN][1000 genomes]
rs4133248	1.00[ASN][1000 genomes]
rs4318822	1.00[ASN][1000 genomes]
rs4339399	1.00[ASN][1000 genomes]
rs4345355	1.00[ASN][1000 genomes]
rs4365880	1.00[ASN][1000 genomes]
rs4380709	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4386769	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4400171	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4410683	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4425555	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4425556	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4455613	1.00[ASN][1000 genomes]
rs4493715	1.00[ASN][1000 genomes]
rs4493716	0.91[EUR][1000 genomes]
rs4496752	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4557470	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4577751	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4580821	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4582335	1.00[ASN][1000 genomes]
rs4620068	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4628037	1.00[ASN][1000 genomes]
rs4628038	1.00[ASN][1000 genomes]
rs4836374	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs55657505	0.82[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55683423	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55696017	0.91[EUR][1000 genomes]
rs55715053	0.81[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55770077	1.00[ASN][1000 genomes]
rs55791343	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55839668	1.00[ASN][1000 genomes]
rs55840580	0.91[EUR][1000 genomes]
rs55944506	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56018106	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56072924	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56173634	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56232757	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56358260	0.88[EUR][1000 genomes]
rs56766733	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57454105	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58143160	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58295967	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58349179	0.91[EUR][1000 genomes]
rs58955919	1.00[ASN][1000 genomes]
rs59143127	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59567527	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60324229	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60574263	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61081409	0.91[EUR][1000 genomes]
rs61358597	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61375240	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62390696	1.00[ASN][1000 genomes]
rs62390705	1.00[ASN][1000 genomes]
rs62390715	1.00[ASN][1000 genomes]
rs62390716	1.00[ASN][1000 genomes]
rs62390718	1.00[ASN][1000 genomes]
rs62390719	1.00[ASN][1000 genomes]
rs62390724	1.00[ASN][1000 genomes]
rs62390725	1.00[ASN][1000 genomes]
rs62390726	1.00[ASN][1000 genomes]
rs66899065	1.00[ASN][1000 genomes]
rs67539441	1.00[ASN][1000 genomes]
rs67941180	1.00[ASN][1000 genomes]
rs6863062	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6863262	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6863380	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6863460	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6864449	1.00[ASN][1000 genomes]
rs6865828	0.90[YRI][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6870737	1.00[ASN][1000 genomes]
rs6870746	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6871698	1.00[ASN][1000 genomes]
rs6873360	1.00[CEU][hapmap]
rs6875600	1.00[ASN][1000 genomes]
rs6876597	1.00[ASN][1000 genomes]
rs6876609	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6877748	1.00[ASN][1000 genomes]
rs6877872	1.00[ASN][1000 genomes]
rs6877956	1.00[ASN][1000 genomes]
rs6878062	1.00[ASN][1000 genomes]
rs6878172	1.00[ASN][1000 genomes]
rs6880762	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6885752	1.00[ASN][1000 genomes]
rs6886451	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6891153	1.00[CEU][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6891166	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6892406	1.00[ASN][1000 genomes]
rs6897170	1.00[ASN][1000 genomes]
rs6898190	1.00[ASN][1000 genomes]
rs73334912	1.00[ASN][1000 genomes]
rs73346354	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73348066	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73348070	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73348077	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73348078	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73348080	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73348085	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73348087	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73348099	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73348102	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73348278	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73348280	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73348283	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73348287	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73348295	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73348296	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73348299	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73350104	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73350106	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73350109	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73350115	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73350129	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73350134	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73350195	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73351861	0.91[EUR][1000 genomes]
rs73351865	0.91[EUR][1000 genomes]
rs73351884	0.91[EUR][1000 genomes]
rs73352205	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73352207	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73352225	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73352737	0.86[EUR][1000 genomes]
rs73352741	0.86[EUR][1000 genomes]
rs73352743	0.86[EUR][1000 genomes]
rs7443826	1.00[ASN][1000 genomes]
rs7443867	0.80[AFR][1000 genomes]
rs7446246	1.00[ASN][1000 genomes]
rs7446359	1.00[ASN][1000 genomes]
rs7447218	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs764369	1.00[CEU][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7700287	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7704921	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7709202	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7709476	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7709634	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7712769	1.00[ASN][1000 genomes]
rs7714023	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7714465	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7714623	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7720190	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7724233	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7724383	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7725452	1.00[ASN][1000 genomes]
rs7725949	1.00[ASN][1000 genomes]
rs7727413	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7728409	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7730875	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7732171	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7734405	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7734534	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7735831	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs892864	1.00[CEU][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs968008	1.00[CEU][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	nsv530822	chr5:127777365-127900742	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
3	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:8)

SNP	Gene	Cis/trans	Tissue	Source
rs6595840	FBN2	cis	Adipose Subcutaneous	GTEx
rs6595840	FBN2	cis	lung	GTEx
rs6595840	FBN2	cis	Thyroid	GTEx
rs6595840	FBN2	cis	multi-tissue	Pritchard
rs6595840	FBN2	cis	Artery Aorta	GTEx
rs6595840	FBN2	cis	Artery Tibial	GTEx
rs6595840	FBN2	cis	Nerve Tibial	GTEx
rs6595840	FBN2	cis	Whole Blood	GTEx

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127887400-127888000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr5:127887600-127888000	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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