Variant report

Variant	nsv963221
Chromosome Location	chr2:33877828-33892244
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 619 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:619 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140162172	chr2:33877880-33877881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs186007000	chr2:33877887-33877888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs572755030	chr2:33877889-33877890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs141575433	chr2:33877982-33877983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs571826405	chr2:33879003-33879004	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs534557912	chr2:33879021-33879022	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs554065227	chr2:33879023-33879024	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs11684779	chr2:33879027-33879028	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs185554151	chr2:33879044-33879045	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs556318391	chr2:33879052-33879053	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs188718249	chr2:33879063-33879064	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs544996929	chr2:33879064-33879065	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs546654646	chr2:33879084-33879085	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs140529789	chr2:33879093-33879094	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs6543731	chr2:33879159-33879160	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs73928954	chr2:33879189-33879190	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs555797104	chr2:33879193-33879194	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs375937989	chr2:33879194-33879195	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs557628971	chr2:33879211-33879212	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs572693033	chr2:33879237-33879238	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs575989103	chr2:33879284-33879285	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs6543732	chr2:33879316-33879317	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs144362923	chr2:33879317-33879318	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs73928955	chr2:33879322-33879323	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs147852441	chr2:33879428-33879429	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs569394426	chr2:33879437-33879438	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs192806075	chr2:33879444-33879445	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs184308863	chr2:33879449-33879450	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs551482361	chr2:33879459-33879460	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs571658502	chr2:33879477-33879478	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs189880448	chr2:33879522-33879523	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs181039055	chr2:33879535-33879536	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs555222952	chr2:33879544-33879545	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs13422585	chr2:33879596-33879597	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs536823054	chr2:33879603-33879604	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs543831577	chr2:33879642-33879643	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs141428111	chr2:33879643-33879644	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs569761848	chr2:33879671-33879672	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs74806272	chr2:33879677-33879678	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs78048202	chr2:33879689-33879690	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs572010008	chr2:33879693-33879694	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs532846090	chr2:33879698-33879699	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs540938110	chr2:33879732-33879733	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs10178622	chr2:33879745-33879746	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs560035177	chr2:33879771-33879772	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs574426951	chr2:33879780-33879781	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs112126528	chr2:33879796-33879797	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs150205195	chr2:33879797-33879798	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs78133470	chr2:33879819-33879820	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs77614513	chr2:33879836-33879837	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Breast cancer	21364760	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	18927303	CNVD
Hereditary gingival fibromatosis	19633868	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Neurocytoma	17123091	CNVD
Autism	22495309	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:33869800-33878000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr2:33879000-33880800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
3	chr2:33880400-33880800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:33880600-33895800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:33880800-33888600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr2:33885800-33886200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr2:33886000-33887400	Enhancers	Placenta	Placenta
8	chr2:33887800-33889000	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr2:33888200-33888600	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr2:33888600-33889000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr2:33888600-33889400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr2:33888800-33891000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
13	chr2:33888800-33891400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
14	chr2:33889000-33889200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr2:33889000-33889600	Strong transcription	H1 Cell Line	embryonic stem cell
16	chr2:33889000-33891600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
17	chr2:33889200-33895600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr2:33889400-33891200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
19	chr2:33889600-33891400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
20	chr2:33890400-33891000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
21	chr2:33891000-33891600	Strong transcription	HUES64 Cell Line	embryonic stem cell
22	chr2:33891200-33903200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr2:33891600-33903000	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr2:33891800-33892200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr2:33891800-33892200	Enhancers	Placenta	Placenta
26	chr2:33891800-33892600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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