Variant report

Variant	rs709004
Chromosome Location	chr20:22197991-22197992
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs804541	0.95[ASN][1000 genomes]
rs804619	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs804621	0.86[AFR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs804623	0.95[EUR][1000 genomes]
rs804681	0.95[EUR][1000 genomes]
rs804682	0.95[EUR][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	nsv1058137	chr20:21549350-22295051	Weak transcription Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:22197600-22198000	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
2	chr20:22197600-22198000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr20:22197600-22198000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr20:22197600-22198200	Enhancers	GM12878-XiMat	blood
5	chr20:22197600-22198400	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr20:22197600-22198800	Enhancers	H1 Cell Line	embryonic stem cell
7	chr20:22197600-22199000	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr20:22197800-22198200	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr20:22197800-22198600	Enhancers	NHEK	skin
10	chr20:22197800-22198800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr20:22197800-22198800	Bivalent Enhancer	Fetal Muscle Leg	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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