Variant report

Variant	rs72666450
Chromosome Location	chr1:57085739-57085740
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs17114115	0.88[EUR][1000 genomes]
rs58146416	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72664370	0.88[EUR][1000 genomes]
rs72666445	1.00[ASN][1000 genomes]
rs72666448	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72666481	1.00[EUR][1000 genomes]
rs72666484	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72666485	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72666490	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72666498	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72668305	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72668306	0.89[EUR][1000 genomes];0.90[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	nsv869295	chr1:56894955-57656562	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	esv2762142	chr1:57082459-57094901	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv945967	chr1:57084318-57086467	Weak transcription Enhancers	TF binding region	1 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	chr1:57083200-57091600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr1:57085400-57085800	Enhancers	H1 Derived Mesenchymal Stem 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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