Variant report

Variant	rs6688960
Chromosome Location	chr1:213791421-213791422
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11120125	1.00[ASN][1000 genomes]
rs11801377	1.00[ASN][1000 genomes]
rs12065591	1.00[ASN][1000 genomes]
rs17020842	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17020918	1.00[ASN][1000 genomes]
rs17020923	1.00[ASN][1000 genomes]
rs320383	1.00[ASN][1000 genomes]
rs320420	1.00[ASN][1000 genomes]
rs57534780	1.00[ASN][1000 genomes]
rs58047388	1.00[ASN][1000 genomes]
rs59319827	1.00[ASN][1000 genomes]
rs59349475	1.00[ASN][1000 genomes]
rs60866557	1.00[ASN][1000 genomes]
rs74142506	0.91[EUR][1000 genomes];1.00[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	esv3345878	chr1:213714352-213841547	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	esv3426755	chr1:213714443-213841514	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	esv3378592	chr1:213714463-213841484	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:213787600-213792800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:213790600-213795200	Weak transcription	HepG2	liver
3	chr1:213790600-213796000	Weak transcription	Psoas Muscle	Psoas
4	chr1:213790800-213792200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr1:213790800-213794600	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr1:213790800-213796000	Weak transcription	Skeletal Muscle Female	skeletal muscle

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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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