Variant report

Variant	rs11116324
Chromosome Location	chr12:84730113-84730114
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs1038314	0.85[AFR][1000 genomes]
rs10862845	0.85[AFR][1000 genomes]
rs10862846	0.84[AFR][1000 genomes]
rs11116277	0.80[AMR][1000 genomes]
rs11116278	0.81[AMR][1000 genomes]
rs11116279	0.80[AMR][1000 genomes]
rs11116280	0.80[AMR][1000 genomes]
rs11116281	0.81[AMR][1000 genomes]
rs11116315	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11116316	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11116317	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11116321	0.83[EUR][1000 genomes]
rs11116322	0.82[EUR][1000 genomes]
rs11116323	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11116325	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1116598	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1116599	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12318568	0.81[AMR][1000 genomes]
rs12320923	0.81[AMR][1000 genomes]
rs12322222	0.81[AMR][1000 genomes]
rs12322470	0.81[AMR][1000 genomes]
rs12821176	0.82[AMR][1000 genomes]
rs12822594	0.81[AMR][1000 genomes]
rs12824374	0.81[AMR][1000 genomes]
rs12831832	0.81[AMR][1000 genomes]
rs1482405	0.82[MKK][hapmap]
rs17830001	0.83[EUR][1000 genomes]
rs2128339	0.81[AMR][1000 genomes]
rs2929748	1.00[CHB][hapmap];0.82[JPT][hapmap];0.84[AMR][1000 genomes]
rs2929756	1.00[CHB][hapmap];0.82[JPT][hapmap];0.81[AMR][1000 genomes]
rs2929757	1.00[CHB][hapmap];0.82[JPT][hapmap];0.81[AMR][1000 genomes]
rs2929758	0.81[AMR][1000 genomes]
rs2929759	0.81[AMR][1000 genomes]
rs2929761	0.81[AMR][1000 genomes]
rs2929815	1.00[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];0.82[JPT][hapmap];0.82[MEX][hapmap];0.88[TSI][hapmap]
rs2947153	0.81[AMR][1000 genomes]
rs2947154	1.00[CHB][hapmap];0.82[JPT][hapmap];0.81[AMR][1000 genomes]
rs2947155	0.81[AMR][1000 genomes]
rs2956290	1.00[CHB][hapmap];0.82[JPT][hapmap];0.84[AMR][1000 genomes]
rs2956294	0.81[AMR][1000 genomes]
rs2956300	0.81[AMR][1000 genomes]
rs2956301	0.81[AMR][1000 genomes]
rs36033269	0.81[AMR][1000 genomes]
rs4290310	0.81[AMR][1000 genomes]
rs4589370	0.80[AMR][1000 genomes]
rs4592493	0.81[AMR][1000 genomes]
rs4882412	0.81[AMR][1000 genomes]
rs4882415	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4882499	0.83[EUR][1000 genomes]
rs4882500	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4882501	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4882502	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4882503	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4882505	0.83[EUR][1000 genomes]
rs58363255	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6539835	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6539837	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67952932	0.81[AMR][1000 genomes]
rs7297318	0.80[AMR][1000 genomes]
rs7304209	0.80[AMR][1000 genomes]
rs73152925	0.81[AMR][1000 genomes]
rs73160431	0.82[EUR][1000 genomes]
rs7961334	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7973519	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs7973742	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7976572	0.81[AMR][1000 genomes]
rs931222	0.82[AFR][1000 genomes]
rs931223	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9669137	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs970182	0.81[AMR][1000 genomes]
rs970183	0.81[AMR][1000 genomes]
rs970184	0.81[AMR][1000 genomes]
rs986802	0.84[AMR][1000 genomes]

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	nsv899363	chr12:84450824-84940345	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv469500	chr12:84473551-84760604	Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv559574	chr12:84473551-84760604	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv899365	chr12:84511125-84940345	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv899369	chr12:84536107-85067814	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv916310	chr12:84589526-84815067	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv832474	chr12:84634858-84800423	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv899371	chr12:84650301-84804326	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv899372	chr12:84650301-84830157	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv1035863	chr12:84710250-85331290	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 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	chr12:84724000-84733200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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