Variant report

Variant	rs2718992
Chromosome Location	chr8:67397609-67397610
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs2433595	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2465988	1.00[CEU][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2465989	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2555573	0.83[AFR][1000 genomes]
rs2555577	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2555586	1.00[CEU][hapmap];0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2555589	0.81[AFR][1000 genomes]
rs2555590	1.00[CEU][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2718993	1.00[CEU][hapmap];0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2718998	0.83[AFR][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	esv3446467	chr8:66749863-67667068	Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	nsv6236	chr8:67359312-67403981	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv1026137	chr8:67376420-67408122	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67380800-67405200	Weak transcription	Aorta	Aorta
2	chr8:67387400-67406400	Weak transcription	Liver	Liver
3	chr8:67395000-67403800	Enhancers	Primary B cells from peripheral blood	blood
4	chr8:67395800-67398400	Weak transcription	Spleen	Spleen
5	chr8:67396000-67406400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr8:67396200-67398200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr8:67396200-67398200	Weak transcription	NH-A	brain
8	chr8:67396200-67398200	Weak transcription	Osteobl	bone
9	chr8:67396200-67402400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr8:67396200-67406000	Weak transcription	NHDF-Ad	bronchial
11	chr8:67396400-67398200	Weak transcription	NHLF	lung
12	chr8:67396800-67404800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr8:67397000-67398000	Enhancers	Primary B cells from cord blood	blood
14	chr8:67397200-67403800	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr8:67397400-67400200	Enhancers	Monocytes-CD14+_RO01746	blood
16	chr8:67397600-67397800	Flanking Active TSS	GM12878-XiMat	blood
17	chr8:67397600-67398400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
18	chr8:67397600-67399400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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