Variant report

Variant	rs12212719
Chromosome Location	chr6:72330453-72330454
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10485020	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1076994	0.89[AMR][1000 genomes]
rs10942960	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12189736	0.81[CEU][hapmap];0.85[AMR][1000 genomes]
rs12192131	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12198794	1.00[CEU][hapmap]
rs12203374	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12207658	0.80[CEU][hapmap];0.85[AMR][1000 genomes]
rs12209719	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12212596	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12214266	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12214683	0.81[CEU][hapmap];0.85[AMR][1000 genomes]
rs12214970	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12215019	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12524994	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12526974	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12527016	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13196378	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13205327	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13220610	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17453537	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17550741	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34080587	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs35128468	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs35240683	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs35345970	0.85[AMR][1000 genomes]
rs36088985	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3912534	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs57552110	0.81[AFR][1000 genomes]
rs62404299	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs67651127	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6902698	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6903314	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6927741	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs71555493	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7775176	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs829273	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830685	chr6:72244007-72410757	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12212719	GIMAP4	trans	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:72330000-72331800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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