Variant report

Variant	rs7488598
Chromosome Location	chr12:85647810-85647811
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10160886	0.82[GIH][hapmap]
rs10506912	0.82[GIH][hapmap]
rs10779155	0.83[EUR][1000 genomes]
rs10862955	0.82[GIH][hapmap]
rs10862966	0.85[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs10862968	0.82[EUR][1000 genomes]
rs10862969	0.81[EUR][1000 genomes]
rs11116694	0.90[CHB][hapmap];0.89[JPT][hapmap]
rs11116704	0.82[GIH][hapmap]
rs11116707	0.82[GIH][hapmap]
rs11116708	0.82[GIH][hapmap]
rs11116771	0.96[CEU][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11609088	0.82[GIH][hapmap]
rs11612309	0.82[GIH][hapmap]
rs12231122	0.82[GIH][hapmap]
rs12315575	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12810608	1.00[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs12814669	0.82[GIH][hapmap]
rs1389798	0.82[GIH][hapmap]
rs1507209	0.90[CHB][hapmap];0.84[JPT][hapmap]
rs1512732	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1512733	0.92[CEU][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs1512735	0.81[EUR][1000 genomes]
rs17012533	0.82[GIH][hapmap]
rs2174754	0.82[GIH][hapmap]
rs2404772	0.82[GIH][hapmap]
rs2404773	0.82[GIH][hapmap]
rs2660449	0.90[CHB][hapmap];0.84[JPT][hapmap]
rs2660454	0.82[ASN][1000 genomes]
rs2660455	0.82[ASN][1000 genomes]
rs2660459	0.82[ASN][1000 genomes]
rs2708498	0.82[ASN][1000 genomes]
rs359992	0.90[CHB][hapmap];0.84[JPT][hapmap]
rs4074726	0.90[GIH][hapmap];0.87[TSI][hapmap]
rs4076027	0.92[CEU][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4761077	0.82[GIH][hapmap]
rs4761130	0.85[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs6539881	0.90[CHB][hapmap];0.83[JPT][hapmap]
rs6539889	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7133817	0.90[CHB][hapmap];0.84[JPT][hapmap]
rs7135053	0.82[GIH][hapmap]
rs7302315	0.82[GIH][hapmap]
rs7306109	0.83[EUR][1000 genomes]
rs7316291	0.82[EUR][1000 genomes]
rs7486483	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs777035	0.90[CHB][hapmap];0.84[JPT][hapmap]
rs7956568	0.82[GIH][hapmap]
rs7965562	0.82[GIH][hapmap]
rs796567	0.85[CHB][hapmap];0.84[JPT][hapmap]
rs7974418	0.90[CHB][hapmap];0.82[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040452	chr12:85179586-85747907	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	esv1792335	chr12:85321249-86003609	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv899388	chr12:85427691-85766847	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv1040622	chr12:85502226-85693132	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv541558	chr12:85502226-85693132	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv559662	chr12:85544429-85734069	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv817242	chr12:85622245-86069213	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	esv2761757	chr12:85626466-85741934	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv899392	chr12:85638089-85734069	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv533923	chr12:85647133-85713608	Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 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	chr12:85647800-85648000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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