Variant report

Variant	nsv961453
Chromosome Location	chr2:96245977-96248976
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TRIM43-5	chr2:96246017-96246512	NONHSAT072499

Extended variants
information (count: 119 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:119 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs71427036	chr2:96245987-96245988	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs148034879	chr2:96245997-96245998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs543177442	chr2:96246004-96246005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs559849890	chr2:96246005-96246006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs184134109	chr2:96246032-96246033	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
6	rs539602845	chr2:96246054-96246055	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
7	rs551901807	chr2:96246060-96246061	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs571854320	chr2:96246090-96246091	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
9	rs531280172	chr2:96246155-96246156	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
10	rs550990008	chr2:96246156-96246157	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
11	rs569340483	chr2:96246171-96246172	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
12	rs535067789	chr2:96246185-96246186	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
13	rs555059645	chr2:96246295-96246296	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
14	rs565409619	chr2:96246305-96246306	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
15	rs534521359	chr2:96246352-96246353	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
16	rs557972994	chr2:96246370-96246371	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
17	rs557694854	chr2:96246421-96246422	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
18	rs577758631	chr2:96246428-96246429	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
19	rs543727302	chr2:96246429-96246430	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
20	rs557277403	chr2:96246430-96246431	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
21	rs2113416	chr2:96246432-96246433	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs2113415	chr2:96246441-96246442	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
23	rs188143561	chr2:96246461-96246462	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
24	rs377044890	chr2:96246462-96246463	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
25	rs543013208	chr2:96246468-96246469	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
26	rs559887183	chr2:96246494-96246495	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
27	rs2161779	chr2:96246501-96246502	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
28	rs576206821	chr2:96246505-96246506	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
29	rs528543083	chr2:96246512-96246513	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
30	rs545165736	chr2:96246559-96246560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs71427038	chr2:96246567-96246568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs565522827	chr2:96246576-96246577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs71427039	chr2:96246580-96246581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs530991858	chr2:96246588-96246589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs537914011	chr2:96246603-96246604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs191397360	chr2:96246634-96246635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs567586448	chr2:96246648-96246649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs528880462	chr2:96246708-96246709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs548523644	chr2:96246716-96246717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs184651376	chr2:96246751-96246752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs534761924	chr2:96246788-96246789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs190720034	chr2:96246801-96246802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs181473755	chr2:96246806-96246807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs571452007	chr2:96246822-96246823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs536810075	chr2:96246831-96246832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs556248635	chr2:96246846-96246847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs557312436	chr2:96246873-96246874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs573932887	chr2:96246875-96246876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs536653217	chr2:96246901-96246902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs553442401	chr2:96246931-96246932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

Disease	PMID	Source
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
Autism	17483303	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Ovarian cancer	21781307	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Neuroblastoma	18574593	CNVD
Hepatocellular carcinoma	16750200	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
lymphocytic leukemia	21291569	CNVD
Breast cancer	21509527	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Epilepsy	22083797	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:96245000-96251000	Weak transcription	Fetal Heart	heart

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