Variant report

Variant	rs547824
Chromosome Location	chr15:34350485-34350486
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10775220	1.00[AMR][1000 genomes]
rs11630826	1.00[YRI][hapmap]
rs12917199	1.00[AMR][1000 genomes]
rs1865924	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2243764	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2257058	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2632074	1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2632089	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2684929	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2684938	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2684942	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2684948	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2684949	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2684957	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2702275	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2705351	1.00[AMR][1000 genomes]
rs2879445	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4411478	0.87[AFR][1000 genomes]
rs4780200	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4780201	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4780202	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs486970	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs499142	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs527470	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs537920	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs542890	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs545484	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs572179	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs591999	1.00[AMR][1000 genomes]
rs612992	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs643827	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6495507	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6495516	1.00[AMR][1000 genomes]
rs681873	1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs682484	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs683417	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7162728	1.00[AMR][1000 genomes]
rs7494971	1.00[AMR][1000 genomes]
rs8027337	1.00[AMR][1000 genomes]
rs8030334	1.00[YRI][hapmap]
rs8041507	0.83[AFR][1000 genomes];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:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:34349000-34353800	Weak transcription	HSMM	muscle
2	chr15:34349000-34358000	Weak transcription	Aorta	Aorta
3	chr15:34349200-34354000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr15:34349200-34357000	Weak transcription	NHEK	skin
5	chr15:34349400-34354000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr15:34349400-34357000	Weak transcription	HMEC	breast
7	chr15:34349400-34358000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr15:34349600-34351800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr15:34350000-34353800	Weak transcription	Osteobl	bone
10	chr15:34350000-34354000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr15:34350400-34351600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr15:34350400-34351800	Weak transcription	Placenta	Placenta

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