Variant report

Variant	rs4637594
Chromosome Location	chr5:126806142-126806143
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10519936	0.85[CEU][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10519937	0.86[CEU][hapmap]
rs10519938	0.85[CEU][hapmap]
rs11743934	0.86[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11949330	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11950427	0.85[CEU][hapmap];0.85[EUR][1000 genomes]
rs11952366	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11952552	1.00[CEU][hapmap];0.91[CHB][hapmap];0.81[JPT][hapmap];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11959505	0.86[CEU][hapmap];0.80[EUR][1000 genomes]
rs12233927	0.85[CEU][hapmap];0.91[CHB][hapmap];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12234066	1.00[CEU][hapmap];0.91[CHB][hapmap];0.81[JPT][hapmap];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1363388	0.85[CEU][hapmap];0.82[EUR][1000 genomes]
rs1363631	0.86[CEU][hapmap];0.91[CHB][hapmap];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1422318	0.86[CEU][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1593949	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1593950	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17164902	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17164903	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17164915	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17164995	0.83[EUR][1000 genomes]
rs17165090	0.85[CEU][hapmap];0.91[CHB][hapmap];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17839690	0.81[EUR][1000 genomes]
rs17839693	0.86[CEU][hapmap];0.82[JPT][hapmap];0.85[EUR][1000 genomes]
rs2173978	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2408871	0.85[CEU][hapmap];0.85[EUR][1000 genomes]
rs2408873	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2434620	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2898044	0.89[EUR][1000 genomes]
rs3756721	0.85[CEU][hapmap];0.91[CHB][hapmap];0.89[JPT][hapmap];0.88[YRI][hapmap];0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3844184	0.85[CEU][hapmap];0.91[CHB][hapmap];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3851469	0.85[CEU][hapmap];0.91[CHB][hapmap];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3909351	0.86[CEU][hapmap]
rs4395678	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4604231	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55663031	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55763657	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56006993	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs57411417	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59745967	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs60153933	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs60901740	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61175766	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs67425941	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6874521	0.83[EUR][1000 genomes]
rs6874752	0.85[EUR][1000 genomes]
rs6881894	0.85[CEU][hapmap];0.82[EUR][1000 genomes]
rs72790422	0.85[EUR][1000 genomes]
rs72790424	0.85[EUR][1000 genomes]
rs72790426	0.85[EUR][1000 genomes]
rs7700469	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033607	chr5:126385181-127304459	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1019821	chr5:126658200-126934917	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv537894	chr5:126658200-126934917	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv1032587	chr5:126691103-126826978	Genic enhancers Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv830478	chr5:126721368-126937408	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126789800-126830400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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