Variant report

Variant	rs12109254
Chromosome Location	chr5:127931511-127931512
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 141 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:139)

rs_ID	r²[population]
rs10428533	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10428593	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10520003	1.00[JPT][hapmap]
rs11241962	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11241964	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11241965	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11948376	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11948920	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11949017	1.00[JPT][hapmap]
rs11949649	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11949660	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11949692	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11950568	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11950625	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11952247	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11952334	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11952602	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11953201	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11954034	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11954070	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11954906	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11956467	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11956495	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11957248	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11957280	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11957487	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11958376	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11958508	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11958996	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11959560	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13153799	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13153812	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13154414	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13158744	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13160701	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13162214	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13165572	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13167932	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13168271	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13168624	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13172385	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13173782	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13179269	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13181957	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13186444	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1363468	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1363469	0.89[ASN][1000 genomes]
rs17164083	1.00[JPT][hapmap]
rs17164086	1.00[JPT][hapmap]
rs17677244	1.00[JPT][hapmap]
rs34012094	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34139509	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34615740	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34665677	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34881645	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34912177	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34968180	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35024105	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35043622	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35454462	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35544771	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs36003105	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs36052309	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs36071106	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs36125852	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3924302	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4133248	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4298299	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4305681	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4318822	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4323274	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4339399	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4345355	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4365880	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4377749	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4418144	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4455613	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4455614	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4493715	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4493716	0.89[ASN][1000 genomes]
rs4521535	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4582335	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4587123	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4608977	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4626373	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4628037	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4628038	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4634399	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4836374	1.00[JPT][hapmap]
rs55696017	0.89[ASN][1000 genomes]
rs55840580	0.89[ASN][1000 genomes]
rs56358260	0.89[ASN][1000 genomes]
rs58349179	0.89[ASN][1000 genomes]
rs58955919	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61081409	0.89[ASN][1000 genomes]
rs62390696	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62390702	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62390705	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62390715	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62390716	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62390718	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62390719	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62390724	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62390725	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62390726	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs66899065	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs67031953	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs67539441	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs67941180	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6864449	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6870737	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6871698	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6875600	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6876597	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6877748	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6877872	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6877956	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6878062	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6878172	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6885752	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6891153	1.00[JPT][hapmap]
rs6892406	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6897170	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6898190	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs71587985	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73334912	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73351861	0.89[ASN][1000 genomes]
rs73351865	0.89[ASN][1000 genomes]
rs73351884	0.89[ASN][1000 genomes]
rs73352737	0.89[ASN][1000 genomes]
rs73352741	0.89[ASN][1000 genomes]
rs764369	1.00[JPT][hapmap]
rs7709582	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7715766	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7725452	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7727413	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7728360	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs892864	1.00[JPT][hapmap]
rs968008	1.00[JPT][hapmap]

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
rs12109254	FBN2	cis	lung	GTEx
rs12109254	FBN2	cis	Artery Tibial	GTEx
rs12109254	FBN2	cis	Whole Blood	GTEx
rs12109254	FBN2	cis	Thyroid	GTEx
rs12109254	FBN2	cis	Nerve Tibial	GTEx
rs12109254	FBN2	cis	Adipose Subcutaneous	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127931000-127932600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr5:127931000-127933600	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr5:127931200-127932400	Enhancers	Fetal Stomach	stomach
4	chr5:127931200-127932600	Enhancers	Fetal Muscle Leg	muscle

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