Variant report

Variant	rs17006809
Chromosome Location	chr1:220069681-220069682
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1498387	0.87[EUR][1000 genomes]
rs17006764	0.87[CEU][hapmap];0.86[JPT][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17006774	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17006810	0.86[EUR][1000 genomes]
rs67024624	0.82[EUR][1000 genomes]
rs72740952	0.81[EUR][1000 genomes]
rs72740956	0.96[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	nsv1006393	chr1:219925261-220126458	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv1067840	chr1:219990803-220091941	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220068000-220073400	Enhancers	K562	blood
2	chr1:220069000-220070200	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr1:220069200-220070000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr1:220069200-220070400	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr1:220069200-220070600	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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