Variant report

Variant	rs12768723
Chromosome Location	chr10:5327030-5327031
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:5314790..5316685-chr10:5325493..5327295,2	K562	blood:
2	chr10:5325782..5327303-chr10:5331354..5334117,2	K562	blood:

Extended variants
information (count: 86 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs11594514	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11598572	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11598824	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11815997	0.86[ASN][1000 genomes]
rs12413267	0.86[ASN][1000 genomes]
rs12414309	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12415198	0.83[ASN][1000 genomes]
rs12415537	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12763722	0.81[ASN][1000 genomes]
rs12766904	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1572224	0.87[ASN][1000 genomes]
rs1574227	0.86[ASN][1000 genomes]
rs1574228	0.86[ASN][1000 genomes]
rs1574351	0.86[ASN][1000 genomes]
rs1574352	0.86[ASN][1000 genomes]
rs1577317	0.83[ASN][1000 genomes]
rs17134724	0.86[ASN][1000 genomes]
rs17134733	0.83[ASN][1000 genomes]
rs17307911	0.86[ASN][1000 genomes]
rs17399127	0.86[ASN][1000 genomes]
rs17399232	0.86[ASN][1000 genomes]
rs17399725	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17399774	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1889459	0.86[ASN][1000 genomes]
rs1889460	0.86[ASN][1000 genomes]
rs2104995	0.87[ASN][1000 genomes]
rs2225694	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2895072	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34066814	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34179396	0.97[ASN][1000 genomes]
rs34412239	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34419312	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4242789	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4339944	0.87[ASN][1000 genomes]
rs4339945	0.86[ASN][1000 genomes]
rs4434907	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4462242	0.82[EUR][1000 genomes]
rs4880722	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4880723	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4880724	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4880725	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4881422	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4881423	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4881424	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4881425	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4881426	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4881428	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6601939	0.89[EUR][1000 genomes]
rs6601940	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67922847	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7067818	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7076044	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7081832	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7081954	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7082291	0.86[ASN][1000 genomes]
rs7086209	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7089935	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7094236	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7097673	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7097810	0.82[EUR][1000 genomes]
rs7100158	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7100167	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7100466	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72778430	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7901496	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7906894	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7911101	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7919795	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs869009	0.86[ASN][1000 genomes]
rs9423393	0.91[ASN][1000 genomes]
rs9423400	0.81[EUR][1000 genomes]
rs9423569	0.87[ASN][1000 genomes]
rs9423570	0.91[ASN][1000 genomes]
rs9423586	0.87[EUR][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:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:5324400-5327400	Enhancers	Primary hematopoietic stem cells	blood
2	chr10:5325200-5327200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr10:5325200-5327600	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr10:5325400-5327200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr10:5325400-5327400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
6	chr10:5325600-5328000	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr10:5325800-5327200	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr10:5325800-5328000	Enhancers	HUVEC	blood vessel
9	chr10:5326000-5333600	Weak transcription	Esophagus	oesophagus
10	chr10:5326000-5336000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr10:5326200-5327200	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr10:5326600-5327200	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr10:5326600-5332400	Weak transcription	NHDF-Ad	bronchial
14	chr10:5326600-5333000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr10:5326600-5333400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr10:5326600-5334200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr10:5326600-5337200	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr10:5326800-5327200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr10:5326800-5327200	Enhancers	K562	blood
20	chr10:5326800-5327400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr10:5326800-5327400	Enhancers	Primary neutrophils fromperipheralblood	blood
22	chr10:5326800-5327400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr10:5326800-5328000	Weak transcription	Dnd41	blood
24	chr10:5326800-5331600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr10:5326800-5331800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr10:5326800-5331800	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr10:5326800-5332000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr10:5326800-5332200	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr10:5326800-5332200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr10:5326800-5332200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr10:5327000-5327400	Enhancers	A549	lung
32	chr10:5327000-5327800	Weak transcription	Placenta	Placenta
33	chr10:5327000-5329800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr10:5327000-5331600	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr10:5327000-5331600	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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