Variant report

Variant	rs17010005
Chromosome Location	chr1:221590750-221590751
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]
rs12043856	1.00[EUR][1000 genomes]
rs12406123	1.00[ASW][hapmap]
rs17010007	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17010042	1.00[AFR][1000 genomes]
rs17010076	1.00[AFR][1000 genomes]
rs17010084	1.00[AFR][1000 genomes]
rs61433770	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv997685	chr1:220993527-221863416	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv535299	chr1:220993527-221863416	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221586600-221593800	Enhancers	Hela-S3	cervix
2	chr1:221588600-221592000	Weak transcription	Placenta	Placenta
3	chr1:221590400-221591600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:221590400-221591600	Weak transcription	HMEC	breast
5	chr1:221590400-221591600	Weak transcription	NHEK	skin
6	chr1:221590400-221591800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr1:221590400-221591800	Weak transcription	HUVEC	blood vessel

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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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