Variant report

Variant	rs12718244
Chromosome Location	chr7:50175654-50175655
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10248405	1.00[CHB][hapmap];0.92[JPT][hapmap];0.82[TSI][hapmap];0.87[EUR][1000 genomes]
rs10248511	0.84[JPT][hapmap];0.81[EUR][1000 genomes]
rs10269039	0.90[CHB][hapmap]
rs11765672	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11767401	0.90[CHB][hapmap]
rs11767462	0.90[CHB][hapmap]
rs11773433	0.90[CHB][hapmap]
rs12718237	0.81[CEU][hapmap];1.00[CHB][hapmap]
rs13236805	0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1343918	0.90[CHB][hapmap]
rs1379182	0.80[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.92[JPT][hapmap];0.86[TSI][hapmap];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1456898	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1456908	0.92[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.92[JPT][hapmap];0.95[TSI][hapmap];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17633812	1.00[CHB][hapmap];0.92[JPT][hapmap];0.82[EUR][1000 genomes]
rs1993445	0.88[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.92[JPT][hapmap];0.91[TSI][hapmap];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2128663	0.90[CHB][hapmap]
rs2366033	0.82[EUR][1000 genomes]
rs3778763	0.90[CHB][hapmap]
rs3800587	0.90[CHB][hapmap]
rs3807318	0.90[CHB][hapmap]
rs4917003	0.90[CHB][hapmap]
rs6583418	0.90[CHB][hapmap]
rs66644183	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6946345	0.90[CHB][hapmap]
rs6964954	0.90[CHB][hapmap]
rs6973660	0.90[CHB][hapmap]
rs6977804	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs716972	0.82[EUR][1000 genomes]
rs7784216	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7811345	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7811661	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs959676	0.89[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv464444	chr7:49671882-50454736	Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv606897	chr7:49671883-50454736	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv498090	chr7:49708644-50427714	Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv1020869	chr7:49712860-50457544	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 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	chr7:50173600-50192800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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