Variant report

Variant	rs512609
Chromosome Location	chr6:75297845-75297846
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs1041658	0.85[EUR][1000 genomes]
rs10434815	0.81[EUR][1000 genomes]
rs1318620	0.89[EUR][1000 genomes]
rs1334508	0.81[EUR][1000 genomes]
rs1537951	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1855568	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2502498	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2781831	0.90[EUR][1000 genomes]
rs2781832	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2785671	0.85[EUR][1000 genomes]
rs2785682	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2785683	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2785685	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2785686	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4349776	0.81[EUR][1000 genomes]
rs473061	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs475854	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs475924	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs488583	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs490353	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs490721	0.93[EUR][1000 genomes]
rs493138	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs498111	0.85[EUR][1000 genomes]
rs502220	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs508557	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs517112	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs517712	0.85[EUR][1000 genomes]
rs524179	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs527379	0.85[EUR][1000 genomes]
rs531195	0.85[EUR][1000 genomes]
rs551041	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs564969	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs567525	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs575612	0.85[EUR][1000 genomes]
rs6904268	0.81[EUR][1000 genomes]
rs6910123	0.81[EUR][1000 genomes]
rs6912037	0.89[EUR][1000 genomes]
rs7756702	0.85[EUR][1000 genomes]
rs9341476	0.85[EUR][1000 genomes]
rs9341482	0.81[EUR][1000 genomes]
rs9341483	0.81[EUR][1000 genomes]
rs9343176	0.85[EUR][1000 genomes]
rs9343184	0.81[EUR][1000 genomes]
rs9350554	0.85[EUR][1000 genomes]
rs9352141	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9359092	0.81[EUR][1000 genomes]
rs9360807	0.81[EUR][1000 genomes]
rs9360809	0.81[EUR][1000 genomes]
rs9360810	0.81[EUR][1000 genomes]
rs9360811	0.81[EUR][1000 genomes]
rs9360827	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv520746	chr6:75211546-75691814	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv917283	chr6:75234428-75641440	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv830694	chr6:75245483-75446282	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:75296000-75298000	Weak transcription	Hela-S3	cervix
2	chr6:75296200-75298000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr6:75297200-75298000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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