Variant report

Variant	nsv962069
Chromosome Location	chr2:59289967-59297180
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	chr2:59293945..59296234-chr2:59499325..59502113,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-VRK2-5	chr2:59287914-59290901	ENSG00000233723
2	lnc-VRK2-5	chr2:59287914-59290901	NONHSAT070864
3	lnc-VRK2-5	chr2:59287914-59290900	NONHSAT070866
4	lnc-VRK2-18	chr2:59294460-59294558	NONHSAT070868

Extended variants
information (count: 280 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:280 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184160437	chr2:59289993-59289994	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs569371328	chr2:59290089-59290090	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs534171522	chr2:59290093-59290094	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs188217653	chr2:59290178-59290179	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs181361018	chr2:59290198-59290199	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs534232877	chr2:59290199-59290200	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs554343894	chr2:59290228-59290229	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs185685321	chr2:59290234-59290235	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs575724120	chr2:59290270-59290271	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs574055649	chr2:59290292-59290293	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs544825408	chr2:59290298-59290299	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs190793258	chr2:59290344-59290345	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs575318950	chr2:59290361-59290362	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs80032885	chr2:59290381-59290382	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs543106866	chr2:59290405-59290406	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs562884207	chr2:59290411-59290412	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs181500103	chr2:59290433-59290434	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs528129939	chr2:59290434-59290435	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs546613354	chr2:59290445-59290446	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs565214756	chr2:59290474-59290475	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs375156437	chr2:59290475-59290476	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs532292711	chr2:59290500-59290501	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs138697873	chr2:59290616-59290617	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs568932531	chr2:59290645-59290646	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs576474046	chr2:59290654-59290655	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs187406314	chr2:59290667-59290668	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs140674237	chr2:59290690-59290691	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs191870479	chr2:59290741-59290742	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs10490103	chr2:59290759-59290760	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs182912280	chr2:59290776-59290777	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs10490104	chr2:59290803-59290804	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs571139545	chr2:59290822-59290823	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
33	rs538127345	chr2:59290853-59290854	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
34	rs533245791	chr2:59290867-59290868	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
35	rs149342883	chr2:59290897-59290898	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
36	rs571949509	chr2:59292278-59292279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs193131889	chr2:59292323-59292324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs545973355	chr2:59292337-59292338	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs564449560	chr2:59292358-59292359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs372632041	chr2:59292373-59292374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs374701139	chr2:59292429-59292430	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs149658034	chr2:59292431-59292432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs146668850	chr2:59292434-59292435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs548071126	chr2:59292467-59292468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs573304500	chr2:59292487-59292488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs4672276	chr2:59292510-59292511	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs551930328	chr2:59292511-59292512	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs185591181	chr2:59292535-59292536	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs188459568	chr2:59292537-59292538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs180841815	chr2:59292554-59292555	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
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
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	16272173	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Mental retardation	19951919	CNVD
Myelofibrosis	22110671	CNVD
Microcephaly	20799320	CNVD
camptodactyly	20799320	CNVD
cognitive delay	20799320	CNVD
prenatal and postnatal growth deficiency	20799320	CNVD
ptosis of eyelids	20799320	CNVD
Maculopathy	20981449	CNVD
2p16.1 microdeletion syndrome	22283845	CNVD
Autism	22579565	CNVD
Autism	16963482	CNVD
Autism	21750575	CNVD
idiopathic intellectual disability	16963482	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Multiple myeloma	16616336	CNVD
Follicular lymphoma	17699855	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:59292200-59292600	Enhancers	Colon Smooth Muscle	Colon
2	chr2:59292600-59295200	Weak transcription	Colon Smooth Muscle	Colon
3	chr2:59293800-59294800	Enhancers	Placenta	Placenta
4	chr2:59294800-59295200	Weak transcription	Placenta	Placenta
5	chr2:59294800-59295800	Enhancers	Brain Germinal Matrix	brain
6	chr2:59295200-59296600	Enhancers	Colon Smooth Muscle	Colon
7	chr2:59295800-59296000	Enhancers	Placenta	Placenta
8	chr2:59295800-59296200	Enhancers	Rectal Smooth Muscle	rectum
9	chr2:59295800-59307200	Weak transcription	Brain Germinal Matrix	brain
10	chr2:59296200-59303200	Weak transcription	Rectal Smooth Muscle	rectum

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