Variant report

Variant	rs2599723
Chromosome Location	chr8:96027306-96027307
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:95959538..95963295-chr8:96025714..96028383,5	MCF-7	breast:
2	chr8:96026583..96028152-chr8:96035447..96037415,2	MCF-7	breast:
3	chr8:96022721..96025517-chr8:96026848..96029515,2	MCF-7	breast:
4	chr8:96021154..96024035-chr8:96026303..96030842,4	MCF-7	breast:
5	chr8:95961919..95963671-chr8:96025569..96028274,3	MCF-7	breast:
6	chr8:96027034..96028656-chr8:96030290..96032117,2	K562	blood:
7	chr8:96026673..96028534-chr8:96030617..96033209,2	K562	blood:
8	chr8:96021495..96024798-chr8:96025934..96027928,3	K562	blood:
9	chr8:96025997..96028447-chr8:96030122..96031980,2	MCF-7	breast:

No data

No data

No data

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10105495	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2459966	1.00[MEX][hapmap];0.90[TSI][hapmap];0.84[AMR][1000 genomes]
rs2599716	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2599718	1.00[CEU][hapmap];0.95[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2599719	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2678821	1.00[CEU][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2678832	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2678836	1.00[CEU][hapmap];1.00[GIH][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2945553	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62523112	0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv508520	chr8:95939373-96140068	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv524876	chr8:96000919-96027306	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:96003200-96032600	Weak transcription	Gastric	stomach
2	chr8:96009000-96036400	Weak transcription	Spleen	Spleen
3	chr8:96023200-96030200	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr8:96023400-96029000	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr8:96023400-96032600	Weak transcription	Right Atrium	heart
6	chr8:96023400-96036600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr8:96024800-96036400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr8:96026400-96033600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr8:96026800-96032600	Weak transcription	Left Ventricle	heart
10	chr8:96026800-96036400	Weak transcription	HMEC	breast

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

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