Variant report

Variant	rs12313658
Chromosome Location	chr12:86271063-86271064
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 134 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:128)

rs_ID	r²[population]
rs10506918	0.81[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];0.81[MEX][hapmap];0.88[MKK][hapmap];0.83[TSI][hapmap];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10779216	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10863083	0.81[CEU][hapmap];0.82[YRI][hapmap];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10863085	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10863086	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11117042	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11117050	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11117051	1.00[CHB][hapmap];0.83[CHD][hapmap];0.89[ASN][1000 genomes]
rs11117052	1.00[CHB][hapmap];0.83[CHD][hapmap];0.83[TSI][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11117053	0.89[ASN][1000 genomes]
rs11117057	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11117064	0.96[ASN][1000 genomes]
rs11117065	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11503595	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11611664	0.89[ASN][1000 genomes]
rs11613243	0.89[ASN][1000 genomes]
rs11614033	0.89[ASN][1000 genomes]
rs11614830	0.89[ASN][1000 genomes]
rs11614924	0.89[ASN][1000 genomes]
rs11615953	1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11832503	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11832948	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11832992	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11833148	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs11837152	0.89[ASN][1000 genomes]
rs11838160	0.96[ASN][1000 genomes]
rs12297441	0.85[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12300728	0.89[ASN][1000 genomes]
rs12304244	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12305828	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12307686	0.83[ASN][1000 genomes]
rs12308839	1.00[CHB][hapmap];0.89[ASN][1000 genomes]
rs12308898	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12309296	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12309878	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12313775	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12314274	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12314318	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1349060	1.00[CHB][hapmap];0.89[ASN][1000 genomes]
rs1349061	1.00[CHB][hapmap];0.83[CHD][hapmap];0.89[ASN][1000 genomes]
rs1349063	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1448096	0.89[ASN][1000 genomes]
rs1448097	0.89[ASN][1000 genomes]
rs1448098	1.00[CHB][hapmap];0.89[ASN][1000 genomes]
rs1448099	0.86[ASN][1000 genomes]
rs1584368	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1584369	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17280216	0.81[CEU][hapmap];1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs17280483	1.00[CHB][hapmap];0.83[CHD][hapmap];0.89[ASN][1000 genomes]
rs17280643	0.81[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];0.85[TSI][hapmap];0.86[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs17280790	0.89[ASN][1000 genomes]
rs17345787	0.86[ASN][1000 genomes]
rs17345849	1.00[CHB][hapmap];0.83[CHD][hapmap];0.86[ASN][1000 genomes]
rs17345975	0.81[CEU][hapmap];1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs17346231	0.89[ASN][1000 genomes]
rs1900700	1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1900701	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2197769	1.00[CHB][hapmap];0.89[ASN][1000 genomes]
rs2234762	0.96[ASN][1000 genomes]
rs4131243	1.00[CHB][hapmap]
rs4274268	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4362214	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4436622	0.89[ASN][1000 genomes]
rs4488288	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4540904	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4919770	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4919771	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4919779	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56082822	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57278040	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57614821	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58553548	1.00[ASN][1000 genomes]
rs59445394	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60986162	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61928906	0.82[AMR][1000 genomes]
rs61928919	0.86[ASN][1000 genomes]
rs61928955	0.86[ASN][1000 genomes]
rs61930064	0.89[ASN][1000 genomes]
rs61930066	0.89[ASN][1000 genomes]
rs61930067	0.89[ASN][1000 genomes]
rs61930068	0.89[ASN][1000 genomes]
rs61930074	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61930076	0.89[ASN][1000 genomes]
rs61930078	0.89[ASN][1000 genomes]
rs61930132	0.89[ASN][1000 genomes]
rs61930137	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61930139	0.89[ASN][1000 genomes]
rs61930140	0.89[ASN][1000 genomes]
rs61930862	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61930864	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61930865	0.89[ASN][1000 genomes]
rs61930873	0.89[ASN][1000 genomes]
rs6539923	0.86[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6539924	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6539925	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6539926	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6539927	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6539928	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6539929	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6539931	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6539932	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6539933	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7133591	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7134732	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7137596	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7297996	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7299285	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7302741	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7303330	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7304873	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7308229	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7309500	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7311532	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7316772	0.89[ASN][1000 genomes]
rs73176583	0.89[ASN][1000 genomes]
rs7397266	1.00[CHB][hapmap];0.83[CHD][hapmap]
rs7953318	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7953353	0.89[ASN][1000 genomes]
rs7957170	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7960130	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7965388	0.96[ASN][1000 genomes]
rs7966131	0.88[CEU][hapmap]
rs7967183	0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7968248	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7970081	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7970732	0.89[ASN][1000 genomes]
rs7970842	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7974167	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052187	chr12:85954455-86278200	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv541560	chr12:85954455-86278200	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1049179	chr12:86056376-86799188	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv1049443	chr12:86185887-86272493	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	n/a
5	esv1797806	chr12:86198935-86425608	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv1036914	chr12:86201703-86272493	Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:86267800-86271200	Active TSS	HUES6 Cell Line	embryonic stem cell
2	chr12:86268800-86271200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr12:86268800-86271200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr12:86270800-86271400	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr12:86270800-86271600	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr12:86270800-86271800	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr12:86270800-86271800	Enhancers	iPS-18 Cell Line	embryonic stem cell

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