Variant report

Variant	rs6543599
Chromosome Location	chr2:31308594-31308595
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10166079	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10175305	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs10188244	0.89[CEU][hapmap];0.84[GIH][hapmap];0.89[TSI][hapmap];0.92[EUR][1000 genomes]
rs10189705	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10196495	0.84[EUR][1000 genomes]
rs10205657	0.93[EUR][1000 genomes]
rs1075688	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1075689	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11124239	0.88[EUR][1000 genomes]
rs11124240	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs11674713	0.92[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11686425	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11692265	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11888670	0.89[TSI][hapmap];0.87[EUR][1000 genomes]
rs12712310	0.89[CEU][hapmap];0.93[GIH][hapmap];0.96[TSI][hapmap];0.95[EUR][1000 genomes]
rs12712311	0.89[CEU][hapmap];0.93[GIH][hapmap];0.96[TSI][hapmap];0.93[EUR][1000 genomes]
rs12996218	1.00[CEU][hapmap];0.86[GIH][hapmap];0.91[TSI][hapmap];0.94[EUR][1000 genomes]
rs13003016	0.88[EUR][1000 genomes]
rs13029054	0.88[CEU][hapmap];0.94[EUR][1000 genomes]
rs1862975	0.89[CEU][hapmap];0.82[GIH][hapmap];0.91[TSI][hapmap];0.93[EUR][1000 genomes]
rs1862977	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1862978	0.85[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.81[GIH][hapmap];0.95[JPT][hapmap];0.98[TSI][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1862979	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1862981	0.84[ASW][hapmap];0.85[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];0.96[TSI][hapmap];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1991103	0.85[ASW][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];0.81[GIH][hapmap];0.95[JPT][hapmap];0.91[TSI][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1991104	0.81[CEU][hapmap];0.91[CHB][hapmap];0.93[CHD][hapmap];0.81[GIH][hapmap];0.95[JPT][hapmap];0.83[MEX][hapmap];0.95[TSI][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2098787	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2161832	0.94[EUR][1000 genomes]
rs2161833	0.94[EUR][1000 genomes]
rs2194467	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs2194468	0.97[EUR][1000 genomes]
rs2194469	1.00[CEU][hapmap];0.86[GIH][hapmap];0.98[TSI][hapmap];0.97[EUR][1000 genomes]
rs2365192	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[MKK][hapmap];0.98[TSI][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2365196	0.88[EUR][1000 genomes]
rs2365197	0.89[CEU][hapmap];0.91[GIH][hapmap];0.96[TSI][hapmap];0.92[EUR][1000 genomes]
rs2365199	0.89[EUR][1000 genomes]
rs2365200	0.89[CEU][hapmap];0.91[GIH][hapmap];0.96[TSI][hapmap];0.92[EUR][1000 genomes]
rs2365201	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs2365205	0.92[EUR][1000 genomes]
rs2365206	0.89[CEU][hapmap];0.82[GIH][hapmap];0.91[TSI][hapmap];0.92[EUR][1000 genomes]
rs35285211	0.88[EUR][1000 genomes]
rs4337517	0.81[CEU][hapmap]
rs4951965	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6543598	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6543600	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6709814	0.97[EUR][1000 genomes]
rs6713789	0.89[CEU][hapmap];0.86[CHB][hapmap];0.85[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6718085	0.88[EUR][1000 genomes]
rs6718097	0.88[EUR][1000 genomes]
rs6722828	0.89[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6729079	1.00[CEU][hapmap];0.82[GIH][hapmap];0.93[TSI][hapmap];0.94[EUR][1000 genomes]
rs6732067	0.92[CEU][hapmap];0.86[CHB][hapmap];0.88[CHD][hapmap];0.95[JPT][hapmap];0.87[MEX][hapmap];0.98[TSI][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6743541	0.91[CEU][hapmap];0.91[EUR][1000 genomes]
rs6753457	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6760532	0.97[EUR][1000 genomes]
rs6760971	0.97[EUR][1000 genomes]
rs7565689	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7570822	0.81[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7583033	1.00[CEU][hapmap];0.84[GIH][hapmap];0.93[TSI][hapmap];0.94[EUR][1000 genomes]
rs7583218	0.94[EUR][1000 genomes]
rs7586148	0.89[CEU][hapmap]
rs7600547	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs880618	0.81[CEU][hapmap]
rs9973425	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948552	chr2:31118599-31595424	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:31278200-31310800	Weak transcription	Primary hematopoietic stem cells	blood
2	chr2:31295600-31310200	Weak transcription	Primary B cells from cord blood	blood
3	chr2:31297400-31316400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr2:31302000-31321400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr2:31302600-31325200	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr2:31304000-31309200	Enhancers	Fetal Intestine Small	intestine
7	chr2:31304600-31309800	Enhancers	Fetal Intestine Large	intestine
8	chr2:31304800-31310200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr2:31305200-31311200	Weak transcription	HMEC	breast
10	chr2:31305400-31311200	Weak transcription	NHEK	skin
11	chr2:31305400-31311400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr2:31305400-31314000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr2:31307400-31331600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr2:31307600-31309400	Enhancers	Duodenum Mucosa	Duodenum
15	chr2:31307600-31310400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr2:31308400-31308600	Active TSS	Spleen	Spleen
17	chr2:31308400-31309200	Weak transcription	Fetal Kidney	kidney

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