Variant report

Variant	rs2173978
Chromosome Location	chr5:126807733-126807734
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10519936	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10519937	1.00[CEU][hapmap]
rs10519938	1.00[CEU][hapmap]
rs11743934	1.00[CEU][hapmap];0.92[CHB][hapmap];0.91[JPT][hapmap];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11949330	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11950427	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs11952366	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11952552	1.00[CEU][hapmap];0.92[CHB][hapmap];0.82[JPT][hapmap];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11959505	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs12233927	1.00[CEU][hapmap];0.92[CHB][hapmap];0.82[JPT][hapmap];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12234066	1.00[CEU][hapmap];0.92[CHB][hapmap];0.82[JPT][hapmap];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1363388	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs1363631	1.00[CEU][hapmap];0.92[CHB][hapmap];0.82[JPT][hapmap];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1422318	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1593949	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1593950	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17164902	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17164903	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17164915	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17164935	0.85[CEU][hapmap]
rs17164995	0.86[CEU][hapmap];0.87[EUR][1000 genomes]
rs17164996	0.85[CEU][hapmap]
rs17165090	1.00[CEU][hapmap];0.92[CHB][hapmap];0.82[JPT][hapmap];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17604615	0.85[CEU][hapmap]
rs17604665	0.86[CEU][hapmap]
rs17604889	0.85[CEU][hapmap]
rs17673685	0.85[CEU][hapmap]
rs17839693	1.00[CEU][hapmap];0.83[JPT][hapmap];0.88[EUR][1000 genomes]
rs17839695	0.86[CEU][hapmap]
rs2408871	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs2408873	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2434620	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2898044	0.89[EUR][1000 genomes]
rs3756721	1.00[CEU][hapmap];0.92[CHB][hapmap];0.91[JPT][hapmap];0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3812055	0.85[CEU][hapmap]
rs3844184	1.00[CEU][hapmap];0.92[CHB][hapmap];0.82[JPT][hapmap];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3851469	1.00[CEU][hapmap];0.92[CHB][hapmap];0.82[JPT][hapmap];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3909351	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs4395678	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4604231	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4637594	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55663031	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55763657	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56006993	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs57411417	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59745967	0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs60153933	0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs60901740	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61175766	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6595767	0.85[CEU][hapmap]
rs6595769	0.85[CEU][hapmap]
rs67425941	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6874521	0.86[CEU][hapmap];0.87[EUR][1000 genomes]
rs6874752	0.82[EUR][1000 genomes]
rs6881894	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs6886487	0.83[EUR][1000 genomes]
rs72790422	0.82[EUR][1000 genomes]
rs72790424	0.82[EUR][1000 genomes]
rs72790426	0.82[EUR][1000 genomes]
rs72790443	0.83[EUR][1000 genomes]
rs7700469	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[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:3 , 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
2	chr5:126807200-126807800	Enhancers	Fetal Kidney	kidney
3	chr5:126807600-126807800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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