Variant report

Variant	rs58547590
Chromosome Location	chr8:86207598-86207599
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:86201309..86204247-chr8:86206649..86208335,2	K562	blood:
2	chr8:86126895..86128516-chr8:86206289..86209119,2	K562	blood:

Variant related genes	Relation type
ENSG00000176731	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs4150842	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4150875	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4150888	0.81[AFR][1000 genomes]
rs4150892	0.81[AFR][1000 genomes]
rs4150899	0.81[AFR][1000 genomes]
rs4150978	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55716338	1.00[AFR][1000 genomes]
rs56000993	1.00[AFR][1000 genomes]
rs56391532	1.00[AFR][1000 genomes]
rs56696632	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56910369	1.00[AMR][1000 genomes]
rs57413097	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58060795	0.81[AFR][1000 genomes]
rs58078635	1.00[AFR][1000 genomes]
rs58532476	1.00[AFR][1000 genomes]
rs61315346	1.00[AFR][1000 genomes]
rs73688676	1.00[AMR][1000 genomes]
rs73688677	1.00[AMR][1000 genomes]
rs73688685	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73688687	1.00[AFR][1000 genomes]
rs73688689	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73688696	1.00[AFR][1000 genomes]
rs73688700	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73691803	1.00[AFR][1000 genomes]
rs73691805	1.00[AFR][1000 genomes]
rs73691806	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73691808	1.00[AFR][1000 genomes]
rs73691810	1.00[AFR][1000 genomes]
rs73691811	1.00[AFR][1000 genomes]
rs73691812	1.00[AFR][1000 genomes]
rs73691814	1.00[AFR][1000 genomes]
rs73691815	1.00[AFR][1000 genomes]
rs73691817	1.00[AFR][1000 genomes]
rs73691820	1.00[AFR][1000 genomes]
rs73691824	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018483	chr8:86142258-86547831	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv1024759	chr8:86162507-86361533	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv539659	chr8:86162507-86361533	Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv971674	chr8:86187966-86338484	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	esv2761442	chr8:86201657-86230641	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	10 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	chr8:86190200-86208400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr8:86190200-86209600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr8:86190200-86209600	Weak transcription	Gastric	stomach
4	chr8:86191200-86208400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr8:86197200-86211800	Weak transcription	Fetal Intestine Large	intestine
6	chr8:86197400-86225800	Weak transcription	Fetal Intestine Small	intestine
7	chr8:86202200-86208400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr8:86207000-86207800	Enhancers	Fetal Lung	lung
9	chr8:86207000-86208000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr8:86207400-86208400	Weak transcription	HUVEC	blood vessel

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