Variant report

Variant	rs66798250
Chromosome Location	chr2:169777003-169777004
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:169629920..169631115-chr2:169776779..169777787,11	K562	blood:
2	chr2:169775702..169778963-chr2:169780525..169783462,3	K562	blood:
3	chr2:169202892..169203802-chr2:169776914..169777707,3	K562	blood:
4	chr2:169775702..169778664-chr2:169780525..169782299,2	K562	blood:
5	chr2:169769700..169774524-chr2:169775649..169779398,6	K562	blood:
6	chr2:169629906..169631239-chr2:169776809..169777837,8	MCF-7	breast:
7	chr2:169627058..169629094-chr2:169775848..169778213,2	K562	blood:
8	chr2:169204183..169204820-chr2:169776794..169777318,2	K562	blood:
9	chr2:169629191..169630841-chr2:169776722..169777731,4	MCF-7	breast:
10	chr2:168992688..168993571-chr2:169776875..169777426,2	K562	blood:
11	chr2:169202611..169203586-chr2:169776930..169777698,2	MCF-7	breast:

No data

No data

No data

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

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

rs_ID	r²[population]
rs17540154	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34193789	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35973488	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs478333	0.83[AFR][1000 genomes]
rs6709087	0.84[EUR][1000 genomes]
rs7558863	0.84[EUR][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	nsv583599	chr2:169664227-169903096	Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv459943	chr2:169756930-169799010	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv583600	chr2:169756930-169799010	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	4 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	chr2:169770600-169778600	Weak transcription	Liver	Liver
2	chr2:169776800-169785000	Weak transcription	Fetal Intestine Small	intestine
3	chr2:169777000-169777200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr2:169777000-169777600	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr2:169777000-169778000	Enhancers	K562	blood

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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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