Variant report

Variant	rs59712310
Chromosome Location	chr5:49659243-49659244
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10044854	1.00[EUR][1000 genomes]
rs10052275	1.00[EUR][1000 genomes]
rs10052791	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10057052	0.94[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs10060305	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10060422	1.00[EUR][1000 genomes]
rs10061275	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10061475	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10064132	1.00[EUR][1000 genomes]
rs10064192	1.00[EUR][1000 genomes]
rs10071541	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10075105	1.00[EUR][1000 genomes]
rs10077753	1.00[EUR][1000 genomes]
rs10155555	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10471501	1.00[EUR][1000 genomes]
rs10471741	1.00[EUR][1000 genomes]
rs11956767	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13356626	1.00[EUR][1000 genomes]
rs13361719	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13362259	1.00[EUR][1000 genomes]
rs16879103	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16879123	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28887314	1.00[EUR][1000 genomes]
rs303224	0.81[ASN][1000 genomes]
rs59909598	1.00[EUR][1000 genomes]
rs59960546	1.00[EUR][1000 genomes]
rs60119680	1.00[EUR][1000 genomes]
rs60272168	1.00[EUR][1000 genomes]
rs60549055	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60805453	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61193294	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61628676	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6863584	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6876049	1.00[EUR][1000 genomes]
rs6880021	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72751717	0.91[ASN][1000 genomes]
rs73100073	1.00[EUR][1000 genomes]
rs73104231	1.00[ASN][1000 genomes]
rs73104234	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73104242	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73104251	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7702350	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7704643	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7722908	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7723096	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7723166	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7725954	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9632386	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019539	chr5:49455624-49702736	ZNF genes & repeats Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
2	nsv1023402	chr5:49455624-49708458	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	nsv916441	chr5:49584313-49831223	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	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
14	nsv4818	chr5:49647989-49661497	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats	n/a	n/a	inside rSNPs	n/a

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:49652800-49665400	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr5:49656400-49661800	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr5:49656400-49677800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr5:49658200-49661000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
5	chr5:49658600-49659400	Strong transcription	Primary B cells from cord blood	blood
6	chr5:49658600-49661200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr5:49658600-49661200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
8	chr5:49658600-49661200	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr5:49658800-49660000	Enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr5:49658800-49660200	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr5:49658800-49660800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr5:49658800-49661600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
13	chr5:49658800-49662000	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr5:49658800-49662200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr5:49658800-49662200	Enhancers	Dnd41	blood
16	chr5:49659000-49659600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr5:49659000-49659800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr5:49659000-49660400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
19	chr5:49659000-49662200	Enhancers	Primary hematopoietic stem cells	blood
20	chr5:49659200-49659400	Flanking Active TSS	Primary T cells from cord blood	blood
21	chr5:49659200-49661200	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr5:49659200-49662200	Enhancers	Primary hematopoietic stem cells short term culture	blood

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