Variant report

Variant	rs10055793
Chromosome Location	chr5:49850054-49850055
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10050585	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10057335	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10059085	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10471915	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10755235	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs10940497	1.00[CHB][hapmap]
rs11738761	0.80[ASN][1000 genomes]
rs11745945	0.84[ASN][1000 genomes]
rs11750771	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs12188262	1.00[CHB][hapmap]
rs12188654	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs13356533	1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs16879103	1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap]
rs16879123	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16884018	1.00[CHB][hapmap]
rs182230	1.00[CHB][hapmap]
rs1839128	1.00[CHB][hapmap];0.84[ASN][1000 genomes]
rs2034393	0.84[ASN][1000 genomes]
rs2121979	0.84[ASN][1000 genomes]
rs2166893	0.84[ASN][1000 genomes]
rs2166894	0.84[ASN][1000 genomes]
rs2594706	1.00[CHB][hapmap]
rs282553	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs282561	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs28495689	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs28810787	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4572006	0.84[ASN][1000 genomes]
rs4865628	1.00[CHB][hapmap]
rs4865895	0.84[ASN][1000 genomes]
rs6450205	0.83[AMR][1000 genomes]
rs6863162	0.84[ASN][1000 genomes]
rs6872070	0.84[ASN][1000 genomes]
rs6872496	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs6887758	0.84[ASN][1000 genomes]
rs6890519	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs6890869	1.00[CHB][hapmap]
rs7725954	1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032003	chr5:49455624-49881491	Strong transcription Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1016583	chr5:49455624-50116720	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1023140	chr5:49455624-50121623	Enhancers Active TSS Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv1023981	chr5:49584188-49871537	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv537757	chr5:49584188-49871537	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1022067	chr5:49584188-49960083	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv537758	chr5:49584188-49960083	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv918220	chr5:49584188-50111282	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv931010	chr5:49584189-50118254	Genic enhancers Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	nsv523212	chr5:49597497-50058043	Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
11	esv2757995	chr5:49748352-50058182	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
12	esv2759342	chr5:49748352-50058182	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10055793	VWDE	trans	lymphoblastoid	seeQTL

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:49849200-49850200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
2	chr5:49849200-49850200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
3	chr5:49849200-49851000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
4	chr5:49849400-49850200	Enhancers	Primary T helper naive cells from peripheral blood	blood
5	chr5:49849400-49850800	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr5:49849400-49851000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr5:49849800-49850800	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr5:49849800-49851000	Enhancers	Dnd41	blood
9	chr5:49849800-49852000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr5:49850000-49850400	Weak transcription	Primary T helper cells PMA-I stimulated	--

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