Variant report

Variant	rs60454446
Chromosome Location	chr5:127980748-127980749
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10040226	0.91[ASN][1000 genomes]
rs10045094	0.85[ASN][1000 genomes]
rs10060222	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10066569	0.91[ASN][1000 genomes]
rs10066620	0.91[ASN][1000 genomes]
rs10073671	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10477686	0.90[ASN][1000 genomes]
rs10478816	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12521101	0.91[ASN][1000 genomes]
rs13185878	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13361872	0.85[ASN][1000 genomes]
rs1363467	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1363470	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1422459	0.85[ASN][1000 genomes]
rs35638608	0.90[ASN][1000 genomes]
rs3935200	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3935201	0.90[ASN][1000 genomes]
rs4240408	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4277962	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4351202	0.88[ASN][1000 genomes]
rs4362987	0.91[ASN][1000 genomes]
rs4370320	0.90[ASN][1000 genomes]
rs4415123	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4482943	0.88[ASN][1000 genomes]
rs4579300	0.91[ASN][1000 genomes]
rs4836381	0.88[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs4836384	0.90[ASN][1000 genomes]
rs4836385	0.90[ASN][1000 genomes]
rs55700282	0.90[ASN][1000 genomes]
rs55877902	0.90[ASN][1000 genomes]
rs56413030	0.90[ASN][1000 genomes]
rs6595843	0.88[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs6595848	0.85[ASN][1000 genomes]
rs6595849	0.87[ASN][1000 genomes]
rs6859278	0.94[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs6870419	0.88[ASN][1000 genomes]
rs6876464	0.88[ASN][1000 genomes]
rs6878310	0.94[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs6895717	0.91[ASN][1000 genomes]
rs6897611	0.91[ASN][1000 genomes]
rs6897794	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73350645	0.91[ASN][1000 genomes]
rs7715195	0.87[ASN][1000 genomes]
rs7715781	0.88[ASN][1000 genomes]
rs9327479	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][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	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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs60454446	FBN2	cis	lung	GTEx
rs60454446	FBN2	cis	Thyroid	GTEx

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127979200-127985800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr5:127979600-127981600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr5:127980000-127980800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr5:127980000-127980800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr5:127980400-127980800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr5:127980400-127981000	Flanking Active TSS	HUVEC	blood vessel
7	chr5:127980400-127981000	Active TSS	NHDF-Ad	bronchial
8	chr5:127980400-127981200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr5:127980600-127980800	Enhancers	HMEC	breast
10	chr5:127980600-127980800	Flanking Active TSS	Osteobl	bone
11	chr5:127980600-127981000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr5:127980600-127981000	Flanking Active TSS	Hela-S3	cervix
13	chr5:127980600-127981000	Active TSS	NH-A	brain
14	chr5:127980600-127981000	Active TSS	NHLF	lung
15	chr5:127980600-127981200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr5:127980600-127981200	Flanking Active TSS	Muscle Satellite Cultured Cells	--

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