Variant report

Variant	rs1595253
Chromosome Location	chr6:81102919-81102920
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1341277	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1561180	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2082998	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2322764	0.82[AFR][1000 genomes]
rs2322768	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4706842	0.85[AFR][1000 genomes]
rs56817842	1.00[AMR][1000 genomes]
rs57116637	1.00[AMR][1000 genomes]
rs58029226	1.00[AMR][1000 genomes]
rs6454156	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6907711	0.82[AFR][1000 genomes]
rs6920569	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6929118	0.95[YRI][hapmap]
rs7749724	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9449064	1.00[AMR][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	nsv1034096	chr6:80856135-81150170	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv932996	chr6:80880896-81134991	Flanking Active TSS Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv497995	chr6:80883701-81134991	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv531333	chr6:81042427-81836484	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv1019670	chr6:81086504-81569984	ZNF genes & repeats Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:81078600-81105800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:81084400-81103200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr6:81096600-81105200	Weak transcription	Brain Substantia Nigra	brain
4	chr6:81096800-81103800	Weak transcription	Right Ventricle	heart
5	chr6:81097400-81103000	Weak transcription	Left Ventricle	heart
6	chr6:81097600-81103000	Weak transcription	Aorta	Aorta
7	chr6:81097800-81104200	Weak transcription	Liver	Liver
8	chr6:81098200-81105400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr6:81101600-81103200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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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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