Variant report

Variant	rs643827
Chromosome Location	chr15:34356988-34356989
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	chr15:34354339..34357870-chr15:34358322..34362266,6	K562	blood:

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10775220	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11630826	1.00[YRI][hapmap]
rs12917199	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1865924	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2243764	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2257058	1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2632074	1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2632089	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2684929	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2684938	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2684942	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2684948	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2684949	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2684957	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2702275	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2705351	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2879445	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4411478	0.96[AFR][1000 genomes]
rs4780200	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4780201	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4780202	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs486970	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs499142	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs527470	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs537920	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs542890	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs545484	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs547824	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs572179	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs591999	1.00[AMR][1000 genomes]
rs612992	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6495507	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6495516	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs653404	0.80[MKK][hapmap]
rs681873	1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs682484	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs683417	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7162728	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7494971	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8027337	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8030334	1.00[YRI][hapmap]
rs8041507	1.00[AMR][1000 genomes]
rs891342	1.00[AMR][1000 genomes]
rs919470	1.00[AMR][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	nsv456789	chr15:34034421-34426618	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv568920	chr15:34034421-34426618	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv471235	chr15:34035529-34421951	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv903985	chr15:34279319-34370487	Flanking Active TSS Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:34349000-34358000	Weak transcription	Aorta	Aorta
2	chr15:34349200-34357000	Weak transcription	NHEK	skin
3	chr15:34349400-34357000	Weak transcription	HMEC	breast
4	chr15:34349400-34358000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr15:34354200-34357200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr15:34354200-34372400	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr15:34354200-34375600	Weak transcription	Brain Substantia Nigra	brain
8	chr15:34354200-34376400	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr15:34354400-34379600	Weak transcription	Brain Cingulate Gyrus	brain
10	chr15:34355000-34369000	Weak transcription	Liver	Liver
11	chr15:34356600-34357200	Enhancers	Primary hematopoietic stem cells short term culture	blood

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