Variant report

Variant	rs12528425
Chromosome Location	chr6:120222479-120222480
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs1028961	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11153850	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12526302	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17081699	0.85[EUR][1000 genomes]
rs1751882	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17555372	0.86[EUR][1000 genomes]
rs17557428	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17557498	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17636773	0.87[EUR][1000 genomes]
rs17637543	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2357764	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35511616	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4945651	0.85[EUR][1000 genomes]
rs4945652	0.88[EUR][1000 genomes]
rs4945653	0.91[EUR][1000 genomes]
rs505838	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs547922	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55673748	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55928287	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56052650	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56074031	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56198187	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56217823	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56320026	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56363464	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs57283891	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs57334041	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs579071	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58499424	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs58870997	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs59614059	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61328226	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs66531327	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs66631049	0.91[EUR][1000 genomes]
rs66665303	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs66912712	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs67106263	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs67457989	0.91[EUR][1000 genomes]
rs67618941	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs67620102	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs67658298	0.91[EUR][1000 genomes]
rs68027538	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs724554	0.95[CEU][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs726178	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72952828	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72952889	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72954710	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72954771	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7746191	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7761121	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7761455	0.95[CEU][hapmap];0.86[MEX][hapmap];0.88[TSI][hapmap]
rs9489858	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9489859	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9489860	0.86[CEU][hapmap];0.87[MEX][hapmap];0.84[TSI][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs979327	0.89[AMR][1000 genomes];0.91[EUR][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	nsv886572	chr6:120165475-120284480	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	esv2763951	chr6:120195400-120297444	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	esv2830171	chr6:120200969-120233977	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12528425	BET3L	cis	cerebellum	SCAN
rs12528425	COL10A1	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:120216200-120230600	Weak transcription	Fetal Lung	lung

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