Variant report

Variant	rs2452806
Chromosome Location	chr12:86654063-86654064
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 145 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:135)

rs_ID	r²[population]
rs10160933	1.00[JPT][hapmap]
rs10431399	0.81[CEU][hapmap]
rs10745407	0.96[CEU][hapmap]
rs10745408	0.96[CEU][hapmap];0.95[EUR][1000 genomes]
rs10776953	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs10776954	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10776955	0.96[CEU][hapmap];0.96[EUR][1000 genomes]
rs10776957	0.96[EUR][1000 genomes]
rs10776959	0.94[EUR][1000 genomes]
rs10776961	0.92[CEU][hapmap];0.93[EUR][1000 genomes]
rs10776966	0.92[CEU][hapmap];0.93[EUR][1000 genomes]
rs10776968	0.88[EUR][1000 genomes]
rs10776969	0.92[CEU][hapmap]
rs10776971	0.80[CEU][hapmap]
rs10858408	0.96[CEU][hapmap]
rs10858419	0.92[EUR][1000 genomes]
rs10858427	0.81[CEU][hapmap]
rs10858428	0.81[CEU][hapmap]
rs11103880	1.00[JPT][hapmap]
rs12306070	1.00[JPT][hapmap]
rs12309228	1.00[JPT][hapmap]
rs12311272	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs12311407	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs12311449	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs12578669	0.81[CEU][hapmap]
rs13378062	1.00[JPT][hapmap]
rs1389294	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1389295	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1463749	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1493408	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs1493413	1.00[ASN][1000 genomes]
rs1493415	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs1493416	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1493417	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1493418	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1493419	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1493420	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs1493421	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs1532262	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1542780	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1552839	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1602848	0.90[EUR][1000 genomes]
rs1602850	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1689340	0.88[CEU][hapmap]
rs1689357	0.86[EUR][1000 genomes]
rs1698787	0.92[CEU][hapmap];0.86[EUR][1000 genomes]
rs1922749	0.84[CEU][hapmap]
rs1948448	0.99[EUR][1000 genomes]
rs2131565	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2141925	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2201281	1.00[JPT][hapmap]
rs2250915	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2405797	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2405923	0.84[CEU][hapmap]
rs2405925	0.92[CEU][hapmap]
rs2405928	0.92[CEU][hapmap]
rs2405930	0.92[EUR][1000 genomes]
rs2405933	0.89[EUR][1000 genomes]
rs2405934	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2406115	0.96[CEU][hapmap];0.95[EUR][1000 genomes]
rs2406116	0.96[CEU][hapmap];0.96[EUR][1000 genomes]
rs2406117	0.96[EUR][1000 genomes]
rs2406118	0.96[CEU][hapmap];0.96[EUR][1000 genomes]
rs2406119	0.96[EUR][1000 genomes]
rs2406122	0.96[CEU][hapmap];0.96[EUR][1000 genomes]
rs2406123	0.96[CEU][hapmap];0.96[EUR][1000 genomes]
rs2406127	0.96[CEU][hapmap]
rs2452803	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2452805	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2452807	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs2452811	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2452815	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2465142	1.00[ASN][1000 genomes]
rs2465143	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs2465144	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs2465145	1.00[ASN][1000 genomes]
rs2465146	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2465147	0.98[EUR][1000 genomes]
rs2465148	0.92[ASN][1000 genomes]
rs2465149	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2471560	0.96[CEU][hapmap];0.90[EUR][1000 genomes]
rs2471561	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2471562	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2471563	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2471564	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2471567	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2471568	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs2471569	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs2471570	0.98[EUR][1000 genomes]
rs2897278	0.84[CEU][hapmap];0.90[EUR][1000 genomes]
rs2897280	0.96[CEU][hapmap]
rs4265650	0.95[CEU][hapmap];0.94[EUR][1000 genomes]
rs4329741	0.92[ASN][1000 genomes]
rs4334094	0.96[EUR][1000 genomes]
rs4503614	0.96[EUR][1000 genomes]
rs4628748	0.92[CEU][hapmap];0.93[EUR][1000 genomes]
rs4842483	0.86[CEU][hapmap];0.93[EUR][1000 genomes]
rs6538025	0.96[CEU][hapmap]
rs6538028	0.96[CEU][hapmap]
rs6538029	0.96[CEU][hapmap]
rs6538031	0.94[EUR][1000 genomes]
rs6538032	0.94[EUR][1000 genomes]
rs6538033	0.96[CEU][hapmap]
rs7134045	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7134946	0.89[EUR][1000 genomes]
rs7135177	0.96[CEU][hapmap];0.96[EUR][1000 genomes]
rs7135733	0.96[EUR][1000 genomes]
rs7135741	0.96[EUR][1000 genomes]
rs7137308	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7299319	0.92[CEU][hapmap]
rs7310186	0.94[EUR][1000 genomes]
rs7953196	0.96[CEU][hapmap]
rs7953494	1.00[ASN][1000 genomes]
rs7957560	0.96[CEU][hapmap]
rs7964553	0.96[CEU][hapmap]
rs7972484	0.96[CEU][hapmap];0.93[EUR][1000 genomes]
rs7973773	0.96[CEU][hapmap]
rs839101	0.83[EUR][1000 genomes]
rs839104	0.92[CEU][hapmap]
rs839105	0.91[CEU][hapmap]
rs839148	0.88[CEU][hapmap]
rs839157	0.92[CEU][hapmap]
rs839159	0.92[CEU][hapmap]
rs839163	0.82[EUR][1000 genomes]
rs839164	0.82[EUR][1000 genomes]
rs839165	0.96[CEU][hapmap];0.86[EUR][1000 genomes]
rs839168	0.92[CEU][hapmap];0.82[EUR][1000 genomes]
rs839170	0.92[CEU][hapmap]
rs839171	0.92[CEU][hapmap]
rs844435	0.92[CEU][hapmap]
rs863392	0.96[CEU][hapmap]
rs863395	0.92[CEU][hapmap]
rs865138	0.96[CEU][hapmap]
rs9919783	0.95[EUR][1000 genomes]
rs9919793	0.95[EUR][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	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
2	esv2761759	chr12:86415936-86747726	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv518059	chr12:86416212-86747726	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1041397	chr12:86438607-86737558	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv1053087	chr12:86569126-86733418	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv541564	chr12:86569126-86733418	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv1037003	chr12:86610040-86798121	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv1045386	chr12:86616015-86733418	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv541565	chr12:86616015-86733418	Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	esv2625711	chr12:86652211-86654211	Weak transcription Enhancers	TF binding region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:86644200-86655400	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr12:86650200-86655400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr12:86650200-86658200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr12:86650200-86658400	Weak transcription	Left Ventricle	heart
5	chr12:86651000-86655000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr12:86651400-86655000	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr12:86651400-86658200	Weak transcription	Brain Germinal Matrix	brain
8	chr12:86651600-86655200	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr12:86653800-86654800	Enhancers	Fetal Heart	heart
10	chr12:86653800-86655400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr12:86654000-86654200	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr12:86654000-86654200	Enhancers	H9 Cell Line	embryonic stem cell
13	chr12:86654000-86655200	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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