Variant report

Variant	nsv975414
Chromosome Location	chr12:47565217-47567474
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:47559137..47560939-chr12:47562443..47565562,3	K562	blood:
2	chr12:47564847..47568239-chr12:47568410..47570337,3	K562	blood:

Extended variants
information (count: 115 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:115 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573649887	chr12:47565250-47565251	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs142974438	chr12:47565348-47565349	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs559672141	chr12:47565357-47565358	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs551805549	chr12:47565378-47565379	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs544875665	chr12:47565384-47565385	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs565044425	chr12:47565451-47565452	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs143235503	chr12:47565573-47565574	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs151326685	chr12:47565584-47565585	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs28375766	chr12:47565590-47565591	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs74712279	chr12:47565593-47565594	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs11183769	chr12:47565608-47565609	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs28458307	chr12:47565618-47565619	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs530020320	chr12:47565621-47565622	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs546629382	chr12:47565630-47565631	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs566819756	chr12:47565634-47565635	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs539272804	chr12:47565635-47565636	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs190785813	chr12:47565645-47565646	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs28639414	chr12:47565646-47565647	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs28658042	chr12:47565649-47565650	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs138269266	chr12:47565650-47565651	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs28551596	chr12:47565659-47565660	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs28397062	chr12:47565661-47565662	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs145146818	chr12:47565662-47565663	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs561242848	chr12:47565666-47565667	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs569396127	chr12:47565689-47565690	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs537012282	chr12:47565690-47565691	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs146209413	chr12:47565706-47565707	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs556994203	chr12:47565731-47565732	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs117224606	chr12:47565774-47565775	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs536246556	chr12:47565836-47565837	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs553052891	chr12:47565844-47565845	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs572882914	chr12:47565867-47565868	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs148436593	chr12:47565868-47565869	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs530015053	chr12:47565951-47565952	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs558594905	chr12:47566016-47566017	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs118076666	chr12:47566034-47566035	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs544106662	chr12:47566064-47566065	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs557304028	chr12:47566122-47566123	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs34230051	chr12:47566123-47566124	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs60571479	chr12:47566124-47566125	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs74939542	chr12:47566125-47566126	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs397814180	chr12:47566144-47566145	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs145470714	chr12:47566145-47566146	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs11608805	chr12:47566147-47566148	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs74391562	chr12:47566149-47566150	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs376633786	chr12:47566165-47566166	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs369758472	chr12:47566168-47566169	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs373449902	chr12:47566171-47566172	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs71462950	chr12:47566172-47566173	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs561036135	chr12:47566179-47566180	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
Wilms tumour	21544195	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Follicular lymphoma	20505157	CNVD
Hepatocellular carcinoma	16750200	CNVD
Melanoma	18172304	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Bladder cancer	21909424	CNVD
Multiple myeloma	16616336	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	17661082	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Anaplastic thyroid cancer	18753363	CNVD

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47536000-47578000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr12:47550600-47571800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr12:47550600-47582400	Weak transcription	Aorta	Aorta
4	chr12:47550800-47570000	Weak transcription	Colon Smooth Muscle	Colon
5	chr12:47550800-47570200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr12:47551200-47583600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr12:47551400-47567200	Weak transcription	Spleen	Spleen
8	chr12:47554800-47579600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr12:47555000-47565800	Weak transcription	Primary B cells from peripheral blood	blood
10	chr12:47555000-47576400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr12:47556800-47570400	Weak transcription	Stomach Smooth Muscle	stomach
12	chr12:47557800-47581600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr12:47558600-47580200	Weak transcription	Primary B cells from cord blood	blood
14	chr12:47558800-47570000	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr12:47558800-47582200	Weak transcription	NH-A	brain
16	chr12:47558800-47582400	Weak transcription	Lung	lung
17	chr12:47559000-47570200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr12:47559000-47578000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr12:47559000-47582200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr12:47559400-47570800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr12:47560200-47570000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr12:47560200-47578800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr12:47561400-47565600	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr12:47561400-47578000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr12:47561600-47566000	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr12:47564200-47565400	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr12:47564400-47566000	Weak transcription	Fetal Brain Male	brain
28	chr12:47564600-47566600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
29	chr12:47565200-47566000	ZNF genes & repeats	Primary T cells from cord blood	blood
30	chr12:47565400-47566400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr12:47565600-47566400	Enhancers	Monocytes-CD14+_RO01746	blood
32	chr12:47565600-47567000	Strong transcription	Primary T helper cells PMA-I stimulated	--
33	chr12:47565800-47566200	Weak transcription	HSMM	muscle
34	chr12:47565800-47566400	Enhancers	Primary monocytes fromperipheralblood	blood
35	chr12:47565800-47566400	Enhancers	Primary B cells from peripheral blood	blood
36	chr12:47566000-47566400	Weak transcription	Primary T cells from cord blood	blood
37	chr12:47566000-47568200	Strong transcription	Primary T helper cells fromperipheralblood	blood
38	chr12:47566200-47566600	ZNF genes & repeats	HSMM	muscle
39	chr12:47566400-47566800	Strong transcription	Primary T cells from cord blood	blood
40	chr12:47566400-47567400	Weak transcription	Primary B cells from peripheral blood	blood
41	chr12:47566400-47568800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr12:47566600-47568800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr12:47566600-47575600	Weak transcription	A549	lung
44	chr12:47566600-47582400	Weak transcription	HSMM	muscle
45	chr12:47566800-47570000	Weak transcription	Primary T cells from cord blood	blood
46	chr12:47567000-47570800	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr12:47567400-47568000	Strong transcription	Primary B cells from peripheral blood	blood

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