Variant report

Variant	rs4514512
Chromosome Location	chr12:33459356-33459357
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 101 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:93)

rs_ID	r²[population]
rs10772078	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10772080	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10772081	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10772082	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10844533	0.90[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs10844535	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10844536	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10844538	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10844539	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10844540	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10844546	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10844547	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10844550	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10844551	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10844558	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10844566	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10844567	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10844570	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10844571	1.00[CHB][hapmap]
rs10844572	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10844592	1.00[CHB][hapmap]
rs10844593	1.00[CHB][hapmap]
rs10844594	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10844596	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10844599	1.00[CHB][hapmap]
rs10844600	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10844603	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10844605	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10844608	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11052596	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11052597	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11052599	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11052602	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11052608	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11052615	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11052616	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11052630	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11052637	0.84[ASN][1000 genomes]
rs11052649	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11052663	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11052669	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11052677	1.00[CHB][hapmap]
rs11052684	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11052694	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11052695	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11052696	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11052697	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11052698	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11835630	0.90[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs12228222	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12299895	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12302300	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12321972	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12322653	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1482990	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1601141	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16916410	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16920825	0.90[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs16920827	0.90[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs16921002	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16921021	1.00[CHB][hapmap]
rs1905404	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1905426	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1994166	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2389190	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2389198	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4275702	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4931716	0.84[ASN][1000 genomes]
rs58309791	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60033917	0.85[AFR][1000 genomes]
rs61929561	0.90[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs61929563	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61929596	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6488154	0.84[ASN][1000 genomes]
rs6488155	0.84[ASN][1000 genomes]
rs6488156	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs66639614	0.90[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs66650337	0.90[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs67346975	0.90[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs7134644	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7134904	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7297379	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7298385	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs7298455	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7309592	1.00[CHB][hapmap]
rs7966285	0.90[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs7966412	0.90[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs7966816	0.90[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs7966959	0.90[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs7973722	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7973728	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7974936	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9888427	1.00[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530421	chr12:32825335-33465991	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv1037459	chr12:33310703-33905662	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv541459	chr12:33310703-33905662	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv832368	chr12:33368962-33588498	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1035988	chr12:33399053-33699363	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv1047926	chr12:33427153-33493458	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv8944	chr12:33458026-33459581	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
8	nsv670	chr12:33458451-33503100	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:33449400-33459600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr12:33459000-33459800	Enhancers	Ovary	ovary

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