Variant report

Variant	rs72686267
Chromosome Location	chr1:47879582-47879583
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11577621	0.81[ASN][1000 genomes]
rs11578776	0.81[ASN][1000 genomes]
rs11590933	0.80[ASN][1000 genomes]
rs12239450	0.80[ASN][1000 genomes]
rs17103227	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17103249	0.87[ASN][1000 genomes]
rs17103260	0.80[ASN][1000 genomes]
rs2279277	0.87[ASN][1000 genomes]
rs3738316	0.87[ASN][1000 genomes]
rs55834028	0.85[ASN][1000 genomes]
rs56011601	0.87[ASN][1000 genomes]
rs56235005	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59586402	0.80[ASN][1000 genomes]
rs61412699	0.80[ASN][1000 genomes]
rs6691595	0.81[ASN][1000 genomes]
rs6695969	0.80[ASN][1000 genomes]
rs6702055	0.81[ASN][1000 genomes]
rs72686279	0.87[ASN][1000 genomes]
rs72686288	0.80[ASN][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	nsv871961	chr1:47875627-47912628	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47878000-47882000	Weak transcription	HSMM	muscle
2	chr1:47879200-47879800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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