Variant report

Variant	rs11598572
Chromosome Location	chr10:5327847-5327848
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs11594428	0.92[CHB][hapmap]
rs11594448	0.92[CHB][hapmap]
rs11594514	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11596429	0.92[CHB][hapmap]
rs11598824	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11815997	0.92[CHB][hapmap];1.00[JPT][hapmap]
rs12414309	0.82[ASN][1000 genomes]
rs12415537	0.87[ASN][1000 genomes]
rs12766904	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12768723	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1572224	0.81[ASN][1000 genomes]
rs17134531	0.83[CHB][hapmap];1.00[JPT][hapmap]
rs17134533	0.83[CHB][hapmap];1.00[JPT][hapmap]
rs17399725	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17399774	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1889459	0.92[CHB][hapmap];1.00[JPT][hapmap]
rs1889460	0.92[CHB][hapmap];1.00[JPT][hapmap]
rs2104995	0.81[ASN][1000 genomes]
rs2225694	0.87[ASN][1000 genomes]
rs2895072	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs34066814	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs34179396	0.87[ASN][1000 genomes]
rs34412239	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs34419312	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs3750569	0.83[CHB][hapmap];1.00[JPT][hapmap]
rs3750571	0.83[CHB][hapmap];1.00[JPT][hapmap]
rs3750572	0.83[CHB][hapmap];1.00[JPT][hapmap]
rs3829125	0.83[CHB][hapmap];1.00[JPT][hapmap]
rs4242789	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4339944	0.81[ASN][1000 genomes]
rs4434907	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4880722	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4880723	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4880724	0.87[ASN][1000 genomes]
rs4880725	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4881422	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4881423	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4881424	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4881425	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4881426	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4881428	0.84[ASN][1000 genomes]
rs6601924	0.83[CHB][hapmap];1.00[JPT][hapmap]
rs6601927	0.83[CHB][hapmap];1.00[JPT][hapmap]
rs6601940	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs67922847	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7067818	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7076044	0.87[ASN][1000 genomes]
rs7078211	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs7081832	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7081954	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7082291	0.92[CHB][hapmap];1.00[JPT][hapmap]
rs7086209	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7089935	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7094236	0.87[ASN][1000 genomes]
rs7097673	0.87[ASN][1000 genomes]
rs7100158	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7100167	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7100466	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs72778430	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7901496	0.87[ASN][1000 genomes]
rs7906894	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7908297	0.81[CHB][hapmap];1.00[JPT][hapmap]
rs7911101	0.87[ASN][1000 genomes]
rs7919795	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7921838	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs9423393	0.85[ASN][1000 genomes]
rs9423569	0.81[ASN][1000 genomes]
rs9423570	0.85[ASN][1000 genomes]

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	nsv894792	chr10:4832920-5498724	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv534685	chr10:4914018-5853324	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
3	nsv1039386	chr10:5008383-5348491	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	nsv1036291	chr10:5076258-5456234	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	nsv932104	chr10:5203626-5641023	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
6	nsv549886	chr10:5205437-5632060	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
7	nsv1054865	chr10:5225305-5638119	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
8	nsv466715	chr10:5285597-5348491	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv466717	chr10:5285597-5348491	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	nsv549888	chr10:5285597-5348491	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	nsv894795	chr10:5286600-5348491	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	nsv894796	chr10:5300976-5348491	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:5325600-5328000	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr10:5325800-5328000	Enhancers	HUVEC	blood vessel
3	chr10:5326000-5333600	Weak transcription	Esophagus	oesophagus
4	chr10:5326000-5336000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr10:5326600-5332400	Weak transcription	NHDF-Ad	bronchial
6	chr10:5326600-5333000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr10:5326600-5333400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr10:5326600-5334200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr10:5326600-5337200	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr10:5326800-5328000	Weak transcription	Dnd41	blood
11	chr10:5326800-5331600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr10:5326800-5331800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr10:5326800-5331800	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr10:5326800-5332000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr10:5326800-5332200	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr10:5326800-5332200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr10:5326800-5332200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr10:5327000-5329800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr10:5327000-5331600	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr10:5327000-5331600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr10:5327200-5330400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr10:5327200-5332800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr10:5327400-5328000	ZNF genes & repeats	A549	lung
24	chr10:5327400-5332400	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr10:5327400-5332400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr10:5327400-5332800	Weak transcription	Primary hematopoietic stem cells	blood
27	chr10:5327600-5328600	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr10:5327600-5331800	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr10:5327800-5328000	Enhancers	Placenta	Placenta

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