Variant report

Variant	nsv963920
Chromosome Location	chr2:78247990-78261779
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LRRTM4-3	chr2:78252450-78252550	NONHSAT071835

Extended variants
information (count: 486 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:486 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138237625	chr2:78247997-78247998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs577822928	chr2:78247999-78248000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs142717405	chr2:78248031-78248032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs573423560	chr2:78248079-78248080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs542408443	chr2:78248092-78248093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs561901573	chr2:78248108-78248109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs575545656	chr2:78248122-78248123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs544471464	chr2:78248193-78248194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs150989136	chr2:78248208-78248209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs201975217	chr2:78248209-78248210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs200052472	chr2:78248212-78248213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs562967933	chr2:78248215-78248216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs540713761	chr2:78248307-78248308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs146156478	chr2:78248318-78248319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs183856623	chr2:78248353-78248354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs10168556	chr2:78248404-78248405	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs189022035	chr2:78248427-78248428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs35077218	chr2:78248476-78248477	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs548411992	chr2:78248487-78248488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs36084155	chr2:78248529-78248530	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs530848582	chr2:78248558-78248559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs550870074	chr2:78248578-78248579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs570788509	chr2:78248637-78248638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs562810786	chr2:78248641-78248642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs139011206	chr2:78248779-78248780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs181364490	chr2:78248788-78248789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs369801804	chr2:78248814-78248815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs535518557	chr2:78248854-78248855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs555559648	chr2:78248857-78248858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs149417206	chr2:78248881-78248882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs186281952	chr2:78248926-78248927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs144776097	chr2:78248954-78248955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs576806823	chr2:78249018-78249019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs545781786	chr2:78249025-78249026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs191042032	chr2:78249076-78249077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs182377045	chr2:78249081-78249082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs148439019	chr2:78249121-78249122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs561891994	chr2:78249149-78249150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs186100046	chr2:78249151-78249152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs78667596	chr2:78249171-78249172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs9973916	chr2:78249175-78249176	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs141692620	chr2:78249181-78249182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs546983779	chr2:78249218-78249219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs71422991	chr2:78249227-78249228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs147153520	chr2:78249244-78249245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs535579321	chr2:78249250-78249251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs555419693	chr2:78249253-78249254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs67414293	chr2:78249283-78249284	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs546624837	chr2:78249285-78249286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs537490420	chr2:78249313-78249314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	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
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Lung cancer	18438408	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Renal cell carcinoma	18765545	CNVD
Myxofibrosarcoma	16751306	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Mental retardation	17124404	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Cancer	17440070	CNVD
Myelofibrosis	22110671	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Breast cancer	16272173	CNVD
Epilepsy	22083797	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:78243000-78253200	Weak transcription	HepG2	liver
2	chr2:78250400-78251000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:78251800-78254000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr2:78254000-78254200	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
5	chr2:78255800-78257600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr2:78259000-78259800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
7	chr2:78259800-78262400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr2:78260600-78261600	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr2:78261600-78261800	Enhancers	HUES64 Cell Line	embryonic stem cell

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