Variant report

Variant	nsv962533
Chromosome Location	chr2:186639067-186649686
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZSWIM2-5	chr2:186648418-186648857	ENSG00000231646.1

Extended variants
information (count: 156 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:156 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs116233237	chr2:186639161-186639162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs538588086	chr2:186639171-186639172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs370032954	chr2:186639223-186639224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs149778451	chr2:186639230-186639231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs78094011	chr2:186639231-186639232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs398071460	chr2:186639235-186639236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs71407826	chr2:186639236-186639237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs62199142	chr2:186639239-186639240	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs373868148	chr2:186639254-186639255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs78397513	chr2:186639308-186639309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs78544976	chr2:186639309-186639310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs397837366	chr2:186639320-186639321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs528835057	chr2:186639374-186639375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs2370477	chr2:186639375-186639376	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs557540424	chr2:186639379-186639380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs565634437	chr2:186639391-186639392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs369573127	chr2:186639457-186639458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs7420435	chr2:186639458-186639459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs7422320	chr2:186639459-186639460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs543548959	chr2:186639495-186639496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs200123866	chr2:186639555-186639556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs200928577	chr2:186639574-186639575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs541051291	chr2:186639576-186639577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs370664922	chr2:186639578-186639579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs202198858	chr2:186639599-186639600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs13010517	chr2:186639606-186639607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs9646803	chr2:186639643-186639644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs200347484	chr2:186639682-186639683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs28675674	chr2:186639753-186639754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs6745859	chr2:186639767-186639768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs368787157	chr2:186639771-186639772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs60334676	chr2:186639807-186639808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs371891365	chr2:186639961-186639962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs374308785	chr2:186640009-186640010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs551427555	chr2:186640043-186640044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs6733021	chr2:186640054-186640055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs542138374	chr2:186640152-186640153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs200192007	chr2:186640156-186640157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs563545227	chr2:186640170-186640171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs201795488	chr2:186640184-186640185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs530597793	chr2:186640185-186640186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs6718288	chr2:186640230-186640231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs570874159	chr2:186640241-186640242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs140633371	chr2:186640275-186640276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs545362494	chr2:186640295-186640296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs371283374	chr2:186640296-186640297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs546590826	chr2:186640370-186640371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs145618045	chr2:186640374-186640375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs565309489	chr2:186640384-186640385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs183180532	chr2:186640409-186640410	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	18522746	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Sudden cardiac death	19188705	CNVD
Autism	19329560	CNVD
Urothelial carcinoma	21177765	CNVD
early-passage human iPS cells	21368824	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:186637200-186640600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr2:186638000-186640400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:186640400-186641000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:186640600-186640800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
5	chr2:186647000-186647400	Enhancers	HepG2	liver
6	chr2:186647000-186647800	Enhancers	Fetal Intestine Large	intestine
7	chr2:186647200-186647400	Active TSS	Aorta	Aorta
8	chr2:186647800-186648600	Weak transcription	Fetal Intestine Large	intestine
9	chr2:186648000-186648200	Enhancers	Rectal Mucosa Donor 29	rectum
10	chr2:186648200-186670400	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr2:186648600-186648800	Enhancers	Sigmoid Colon	Sigmoid Colon
12	chr2:186648600-186649400	Enhancers	Fetal Intestine Large	intestine
13	chr2:186648800-186658000	Weak transcription	Sigmoid Colon	Sigmoid Colon

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