Variant report

Variant	nsv962061
Chromosome Location	chr2:35408792-35433415
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	chr2:35419204..35420824-chr2:35561387..35563219,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CRIM1-1	chr2:35410303-35410755	ENSG00000226994.3

Extended variants
information (count: 368 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:368 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561424126	chr2:35409605-35409606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs530470270	chr2:35409627-35409628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs1561554	chr2:35409697-35409698	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs570264633	chr2:35409705-35409706	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs532731285	chr2:35409724-35409725	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs552725901	chr2:35409747-35409748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs369984398	chr2:35409748-35409749	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs115692302	chr2:35409766-35409767	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs535027090	chr2:35409770-35409771	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs554905457	chr2:35409821-35409822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs186686398	chr2:35409829-35409830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs372978086	chr2:35409864-35409865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs537394361	chr2:35409965-35409966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs556962082	chr2:35410064-35410065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs12465444	chr2:35410101-35410102	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs74467769	chr2:35410184-35410185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs377632213	chr2:35410245-35410246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs116198442	chr2:35410263-35410264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs572554166	chr2:35410334-35410335	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
20	rs149805471	chr2:35410336-35410337	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
21	rs371113788	chr2:35410367-35410368	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs561763070	chr2:35410368-35410369	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
23	rs191993549	chr2:35410387-35410388	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
24	rs77196781	chr2:35410459-35410460	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
25	rs7605842	chr2:35410478-35410479	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs377193325	chr2:35410479-35410480	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
27	rs75102113	chr2:35410492-35410493	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
28	rs182857263	chr2:35410493-35410494	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
29	rs79210238	chr2:35410535-35410536	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
30	rs548401991	chr2:35410548-35410549	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
31	rs528646181	chr2:35410575-35410576	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
32	rs548386107	chr2:35410583-35410584	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
33	rs568479503	chr2:35410605-35410606	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
34	rs75275173	chr2:35410625-35410626	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
35	rs542150510	chr2:35410643-35410644	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
36	rs563318261	chr2:35410681-35410682	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
37	rs557233951	chr2:35410683-35410684	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
38	rs530706279	chr2:35410694-35410695	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
39	rs570369699	chr2:35410695-35410696	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
40	rs539249265	chr2:35410733-35410734	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
41	rs375328387	chr2:35410739-35410740	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
42	rs373615688	chr2:35410762-35410763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs140551250	chr2:35410765-35410766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs545516896	chr2:35410780-35410781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs572690821	chr2:35410788-35410789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs541941549	chr2:35410790-35410791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs555147824	chr2:35410803-35410804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs4670445	chr2:35410810-35410811	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs76261309	chr2:35410817-35410818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs564020105	chr2:35410833-35410834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
Breast cancer	21785460	CNVD
Lung cancer	18438408	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
Pancreatic ductal adenocarcinoma	19077451	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:35409600-35409800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr2:35409800-35411000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:35411000-35411600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:35422400-35423200	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr2:35422400-35423200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr2:35423000-35423200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr2:35423000-35423400	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr2:35423200-35423400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr2:35423400-35428600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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