Variant report

Variant	rs59319494
Chromosome Location	chr4:120696060-120696061
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs2389957	0.99[ASN][1000 genomes]
rs2389958	0.99[ASN][1000 genomes]
rs4311295	0.99[ASN][1000 genomes]
rs4447844	1.00[ASN][1000 genomes]
rs6822909	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6842973	0.93[ASN][1000 genomes]
rs9997209	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[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	nsv916641	chr4:119780023-120777320	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv532739	chr4:120392824-121098103	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	nsv966541	chr4:120671470-120702965	Enhancers Weak transcription Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	1 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	chr4:120695000-120696800	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr4:120695200-120696800	Enhancers	H1 Cell Line	embryonic stem cell
3	chr4:120695400-120696400	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr4:120695800-120696200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
5	chr4:120695800-120696200	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr4:120695800-120697000	Enhancers	iPS-18 Cell Line	embryonic stem cell

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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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