Variant report

Variant	rs4482943
Chromosome Location	chr5:127973861-127973862
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10040226	0.97[ASN][1000 genomes]
rs10045094	0.91[ASN][1000 genomes]
rs10060222	0.83[ASN][1000 genomes]
rs10066569	0.97[ASN][1000 genomes]
rs10066620	0.97[ASN][1000 genomes]
rs10477686	0.99[ASN][1000 genomes]
rs10478816	0.89[ASN][1000 genomes]
rs10520005	0.86[CHB][hapmap];0.88[JPT][hapmap]
rs12521101	0.97[ASN][1000 genomes]
rs13185878	0.89[ASN][1000 genomes]
rs13361872	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs1363467	0.83[ASN][1000 genomes]
rs1363470	0.83[ASN][1000 genomes]
rs1422459	0.91[ASN][1000 genomes]
rs35638608	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3935200	0.87[ASN][1000 genomes]
rs3935201	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4240408	0.89[ASN][1000 genomes]
rs4277962	0.89[ASN][1000 genomes]
rs4351202	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4362987	0.97[ASN][1000 genomes]
rs4370320	0.96[ASN][1000 genomes]
rs4415123	0.89[ASN][1000 genomes]
rs4579300	0.97[ASN][1000 genomes]
rs4836384	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4836385	0.99[ASN][1000 genomes]
rs4836388	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap]
rs55700282	0.99[ASN][1000 genomes]
rs55877902	0.99[ASN][1000 genomes]
rs56413030	0.99[ASN][1000 genomes]
rs60454446	0.88[ASN][1000 genomes]
rs6595848	0.96[ASN][1000 genomes]
rs6595849	0.94[ASN][1000 genomes]
rs6870419	1.00[ASN][1000 genomes]
rs6876464	1.00[ASN][1000 genomes]
rs6895717	0.97[ASN][1000 genomes]
rs6897611	0.97[ASN][1000 genomes]
rs6897794	0.88[ASN][1000 genomes]
rs73350645	0.97[ASN][1000 genomes]
rs7715195	0.99[ASN][1000 genomes]
rs7715781	1.00[ASN][1000 genomes]
rs9327479	0.89[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

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127971800-127974400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr5:127972000-127974200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr5:127972400-127975000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr5:127973200-127974400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr5:127973400-127974000	Enhancers	NHDF-Ad	bronchial
6	chr5:127973800-127974600	Weak transcription	Osteobl	bone

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