Variant report

Variant	rs512554
Chromosome Location	chr6:72248749-72248750
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1486596	0.81[AFR][1000 genomes]
rs199626	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs199629	0.88[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs199630	0.86[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs199631	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs514244	0.90[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs565651	0.93[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs9341323	0.80[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs9341324	0.80[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs9358959	0.80[AMR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830684	chr6:72094842-72282684	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	488 gene(s)	inside rSNPs	diseases
2	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:72248200-72250800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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