Variant report

Variant	rs804682
Chromosome Location	chr20:22214511-22214512
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs709004	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes]
rs804619	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs804621	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs804623	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs804681	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs804687	0.85[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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
2	nsv1065067	chr20:22199617-22240462	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:22211600-22215400	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr20:22211800-22214800	Enhancers	Fetal Thymus	thymus
3	chr20:22212400-22214800	Flanking Active TSS	Dnd41	blood
4	chr20:22213800-22214800	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr20:22214200-22214800	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr20:22214200-22215200	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr20:22214400-22214600	Bivalent Enhancer	Fetal Brain Male	brain
8	chr20:22214400-22215200	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr20:22214400-22215800	Enhancers	H9 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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