Variant report

Variant	rs12408130
Chromosome Location	chr1:170375663-170375664
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 123 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:103)

rs_ID	r²[population]
rs1034185	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10494487	1.00[ASN][1000 genomes]
rs10919349	0.90[ASN][1000 genomes]
rs10919378	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10919379	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10919382	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10919390	0.82[EUR][1000 genomes]
rs10919391	0.83[EUR][1000 genomes]
rs10919403	0.82[AMR][1000 genomes]
rs10919405	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs10919406	0.83[AFR][1000 genomes]
rs10919416	0.83[AFR][1000 genomes]
rs10919417	0.83[AFR][1000 genomes]
rs10919421	0.83[AFR][1000 genomes]
rs10919423	0.83[AFR][1000 genomes]
rs10919424	0.83[AFR][1000 genomes]
rs10919426	0.83[AFR][1000 genomes]
rs10919430	0.83[AFR][1000 genomes]
rs11577004	0.83[AFR][1000 genomes]
rs11578119	0.83[AFR][1000 genomes]
rs11584810	0.83[AFR][1000 genomes]
rs11586686	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11587811	0.83[AFR][1000 genomes]
rs12066718	0.81[EUR][1000 genomes]
rs12116863	0.83[AFR][1000 genomes]
rs12116910	0.83[AFR][1000 genomes]
rs12120718	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs12120764	0.83[AFR][1000 genomes]
rs12121358	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12124354	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs12124515	0.83[AFR][1000 genomes]
rs12126109	0.90[ASN][1000 genomes]
rs12126472	0.83[AFR][1000 genomes]
rs12127149	0.90[ASN][1000 genomes]
rs12128082	0.90[ASN][1000 genomes]
rs12128140	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs12129359	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12130086	0.83[AFR][1000 genomes]
rs12130105	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12130520	0.83[AFR][1000 genomes]
rs12132288	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12132402	0.81[ASN][1000 genomes]
rs12132914	0.83[AFR][1000 genomes]
rs12134482	0.83[AFR][1000 genomes]
rs12135132	0.83[AFR][1000 genomes]
rs12135326	0.83[AFR][1000 genomes]
rs12135696	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12137241	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12138138	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs12138644	1.00[ASN][1000 genomes]
rs12139124	0.83[AFR][1000 genomes]
rs12139302	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12140689	0.83[AFR][1000 genomes]
rs12141076	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12141935	1.00[ASN][1000 genomes]
rs12142689	0.83[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs12143611	1.00[ASN][1000 genomes]
rs12145961	0.83[AFR][1000 genomes]
rs12402306	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12402526	0.83[AFR][1000 genomes]
rs12405323	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs12407889	1.00[ASN][1000 genomes]
rs12409985	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12724601	0.83[AFR][1000 genomes]
rs12732119	1.00[ASN][1000 genomes]
rs12734846	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12748912	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12753359	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1332963	1.00[ASN][1000 genomes]
rs1332964	1.00[ASN][1000 genomes]
rs1412890	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs17346122	1.00[ASN][1000 genomes]
rs17346171	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17350179	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17350305	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17350312	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1888173	0.83[AFR][1000 genomes]
rs1999523	0.83[AFR][1000 genomes]
rs2095135	1.00[ASN][1000 genomes]
rs28436845	1.00[ASN][1000 genomes]
rs34161857	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34860969	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35084451	1.00[ASN][1000 genomes]
rs35833908	1.00[ASN][1000 genomes]
rs4256872	1.00[ASN][1000 genomes]
rs4363474	0.82[EUR][1000 genomes]
rs4399219	0.83[EUR][1000 genomes]
rs4489621	0.90[ASN][1000 genomes]
rs4558042	1.00[ASN][1000 genomes]
rs4575137	1.00[ASN][1000 genomes]
rs4578264	1.00[ASN][1000 genomes]
rs6657395	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs66639118	0.83[AFR][1000 genomes]
rs6667077	0.90[ASN][1000 genomes]
rs6667462	0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6675683	0.83[AFR][1000 genomes]
rs6684260	1.00[ASN][1000 genomes]
rs72709772	0.83[AFR][1000 genomes]
rs72709774	0.83[AFR][1000 genomes]
rs7511715	0.83[AFR][1000 genomes]
rs7516510	1.00[ASN][1000 genomes]
rs7534693	1.00[ASN][1000 genomes]
rs7537355	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014033	chr1:169968488-170453021	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
2	nsv535200	chr1:169968488-170453021	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
3	nsv872543	chr1:170171083-170674903	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv533915	chr1:170258766-170725296	Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	esv2756870	chr1:170315081-170413292	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	esv2758977	chr1:170315081-170413292	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
7	nsv1014576	chr1:170366471-170383224	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	inside rSNPs	diseases
8	nsv1012584	chr1:170367098-170387193	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
9	nsv1002109	chr1:170367098-170387331	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
10	nsv441720	chr1:170367646-170387205	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
11	nsv1010414	chr1:170367650-170387193	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
12	esv2764177	chr1:170367650-170387331	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
13	nsv1004916	chr1:170367650-170387331	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
14	nsv1000945	chr1:170367650-170401770	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	inside rSNPs	diseases
15	nsv514018	chr1:170367664-170386144	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
16	nsv1000840	chr1:170367736-170387193	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
17	nsv1000663	chr1:170370782-170387193	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
18	nsv1000790	chr1:170370782-170387331	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
19	nsv517083	chr1:170371403-170380480	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
20	esv3692946	chr1:170372503-170380480	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:170372200-170376000	Weak transcription	NHLF	lung
2	chr1:170372200-170376000	Weak transcription	Osteobl	bone
3	chr1:170372400-170376000	Weak transcription	NHDF-Ad	bronchial
4	chr1:170373200-170376000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr1:170373400-170376000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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