Variant report

Variant	rs839164
Chromosome Location	chr12:86587630-86587631
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10745408	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10776955	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10776957	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10776959	0.84[EUR][1000 genomes]
rs10776961	0.83[EUR][1000 genomes]
rs10776966	0.83[EUR][1000 genomes]
rs10776968	0.81[EUR][1000 genomes]
rs10858419	0.84[EUR][1000 genomes]
rs1463749	0.82[EUR][1000 genomes]
rs1493415	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1493416	0.82[EUR][1000 genomes]
rs1532262	0.88[EUR][1000 genomes]
rs1552839	0.88[EUR][1000 genomes]
rs1602848	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1602850	0.82[EUR][1000 genomes]
rs1689357	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1698787	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1948448	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2131565	0.88[EUR][1000 genomes]
rs2405930	0.84[EUR][1000 genomes]
rs2406115	0.84[EUR][1000 genomes]
rs2406116	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2406117	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2406118	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2406119	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2406122	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2406123	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2452806	0.82[EUR][1000 genomes]
rs2452807	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2452811	0.89[EUR][1000 genomes]
rs2452815	0.87[EUR][1000 genomes]
rs2465143	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2465144	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2465146	0.82[EUR][1000 genomes]
rs2465147	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2471560	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2471568	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2471569	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2471570	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2897278	0.81[EUR][1000 genomes]
rs4265650	0.85[EUR][1000 genomes]
rs4334094	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4503614	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4628748	0.83[EUR][1000 genomes]
rs4842483	0.83[EUR][1000 genomes]
rs6538023	0.82[ASN][1000 genomes]
rs6538024	0.90[ASN][1000 genomes]
rs6538031	0.84[EUR][1000 genomes]
rs6538032	0.84[EUR][1000 genomes]
rs7135177	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7135733	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7135741	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7137308	0.82[EUR][1000 genomes]
rs7310186	0.85[EUR][1000 genomes]
rs7972484	0.84[EUR][1000 genomes]
rs839101	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs839163	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs839165	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs839168	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs863394	0.86[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs9919783	0.84[EUR][1000 genomes]
rs9919793	0.84[EUR][1000 genomes]

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	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	esv3442004	chr12:86514695-86599965	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	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
7	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
8	nsv800	chr12:86572379-86617887	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:86587200-86588000	Enhancers	Muscle Satellite Cultured Cells	--
2	chr12:86587400-86588400	Enhancers	HUVEC	blood vessel
3	chr12:86587600-86588000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr12:86587600-86588000	Enhancers	A549	lung
5	chr12:86587600-86588200	Enhancers	NHEK	skin
6	chr12:86587600-86588800	Enhancers	Hela-S3	cervix

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