Variant report

Variant	rs4587123
Chromosome Location	chr5:127967940-127967941
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:127958051..127960207-chr5:127966862..127969852,2	K562	blood:

Extended variants
information (count: 145 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:142)

rs_ID	r²[population]
rs10428533	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10428593	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10520003	1.00[JPT][hapmap]
rs11241962	0.89[EUR][1000 genomes]
rs11241964	0.87[EUR][1000 genomes]
rs11241965	0.89[EUR][1000 genomes]
rs11948376	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11948920	0.87[EUR][1000 genomes]
rs11949017	1.00[JPT][hapmap]
rs11949649	0.89[EUR][1000 genomes]
rs11949660	0.89[EUR][1000 genomes]
rs11949692	0.89[EUR][1000 genomes]
rs11950568	0.90[EUR][1000 genomes]
rs11950625	0.90[EUR][1000 genomes]
rs11952247	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11952334	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11952602	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11953201	0.89[EUR][1000 genomes]
rs11954034	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11954070	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11954906	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11956467	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11956495	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11957248	0.90[EUR][1000 genomes]
rs11957280	0.90[EUR][1000 genomes]
rs11957487	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11958376	0.80[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs11958508	0.81[EUR][1000 genomes]
rs11958996	0.82[EUR][1000 genomes]
rs11959560	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12109254	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13153799	0.86[EUR][1000 genomes]
rs13153812	0.89[EUR][1000 genomes]
rs13154414	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13158744	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13160701	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13162214	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13165572	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13167932	0.89[EUR][1000 genomes]
rs13168271	0.89[EUR][1000 genomes]
rs13168624	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13172385	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13173782	0.89[EUR][1000 genomes]
rs13174726	0.81[AFR][1000 genomes]
rs13179269	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13181957	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13186444	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1363468	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1363469	1.00[ASN][1000 genomes]
rs17164083	1.00[JPT][hapmap]
rs17164086	1.00[JPT][hapmap]
rs17677244	1.00[JPT][hapmap]
rs34012094	0.88[EUR][1000 genomes]
rs34139509	0.87[EUR][1000 genomes]
rs34615740	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34665677	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34881645	0.89[EUR][1000 genomes]
rs34912177	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs34968180	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35024105	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35043622	0.89[EUR][1000 genomes]
rs35454462	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35544771	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs36003105	0.89[EUR][1000 genomes]
rs36052309	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs36071106	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs36125852	0.89[EUR][1000 genomes]
rs3924302	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4133248	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4298299	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4305681	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4318822	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4323274	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4339399	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4345355	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4365880	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4377749	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4418144	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4455613	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4455614	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4493715	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4493716	1.00[ASN][1000 genomes]
rs4521535	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4582335	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4608977	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4626373	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4628037	0.90[EUR][1000 genomes]
rs4628038	0.90[EUR][1000 genomes]
rs4634399	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[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	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61081409	1.00[ASN][1000 genomes]
rs62390696	0.83[EUR][1000 genomes]
rs62390702	0.89[EUR][1000 genomes]
rs62390705	0.90[EUR][1000 genomes]
rs62390715	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62390716	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62390718	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62390719	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62390724	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62390725	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62390726	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs66899065	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs67031953	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67539441	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs67941180	0.87[EUR][1000 genomes]
rs6860642	0.81[AFR][1000 genomes]
rs6860732	0.81[AFR][1000 genomes]
rs6864449	0.88[EUR][1000 genomes]
rs6870737	0.89[EUR][1000 genomes]
rs6871698	0.89[EUR][1000 genomes]
rs6875600	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6876597	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6877748	0.89[EUR][1000 genomes]
rs6877872	0.89[EUR][1000 genomes]
rs6877956	0.89[EUR][1000 genomes]
rs6878062	0.89[EUR][1000 genomes]
rs6878172	0.89[EUR][1000 genomes]
rs6885752	0.88[EUR][1000 genomes]
rs6891153	1.00[JPT][hapmap]
rs6892406	0.89[EUR][1000 genomes]
rs6897170	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6898190	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs71587985	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73334912	0.89[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	0.86[EUR][1000 genomes]
rs7715766	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7725452	0.87[EUR][1000 genomes]
rs7727413	0.88[EUR][1000 genomes]
rs7728360	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs892864	1.00[JPT][hapmap]
rs968008	1.00[JPT][hapmap]

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	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

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs4587123	FBN2	cis	Artery Tibial	GTEx
rs4587123	FBN2	cis	lung	GTEx
rs4587123	FBN2	cis	Nerve Tibial	GTEx
rs4587123	FBN2	cis	Whole Blood	GTEx
rs4587123	FBN2	cis	Thyroid	GTEx
rs4587123	FBN2	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127965600-127968000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr5:127965600-127968200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr5:127965800-127968400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr5:127965800-127968400	Enhancers	NHEK	skin
5	chr5:127966200-127971600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr5:127966400-127971800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr5:127967600-127968200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr5:127967600-127968200	Enhancers	HMEC	breast
9	chr5:127967600-127968400	Enhancers	Muscle Satellite Cultured Cells	--
10	chr5:127967600-127968800	Enhancers	HUVEC	blood vessel
11	chr5:127967800-127969400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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