Variant report

Variant	rs327646
Chromosome Location	chr7:80853348-80853349
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:80852495..80856208-chr7:80856677..80858955,3	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs172911	0.83[AMR][1000 genomes]
rs179174	0.83[AMR][1000 genomes]
rs182752	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs327628	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs327629	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs327641	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs327642	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs327643	0.83[AMR][1000 genomes]
rs327645	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs327648	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs327713	0.83[AMR][1000 genomes]
rs327714	0.83[AMR][1000 genomes]
rs327715	0.83[AMR][1000 genomes]
rs327717	0.83[AMR][1000 genomes]
rs327721	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs327722	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs327740	0.83[AMR][1000 genomes]
rs327741	0.83[AMR][1000 genomes]
rs327748	0.83[AMR][1000 genomes]
rs475840	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs475847	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59506860	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74271	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034690	chr7:80520004-80987682	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv831044	chr7:80721773-80918591	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv888557	chr7:80813081-80917148	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1023149	chr7:80817550-80928090	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1029034	chr7:80838012-81137146	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv831045	chr7:80841693-81012404	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
7	nsv888558	chr7:80844667-80917148	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:80851400-80853400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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