Variant report

Variant	nsv880283
Chromosome Location	chr5:29420157-29461973
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DROSHA-12	chr5:29425675-29425803	l_2897_chr5:29390052-29431912_testes
2	lnc-DROSHA-12	chr5:29420161-29420256	l_2897_chr5:29390052-29431912_testes
3	lnc-DROSHA-12	chr5:29431718-29431912	l_2897_chr5:29390052-29431912_testes

Extended variants
information (count: 324 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:324 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563670786	chr5:29420166-29420167	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs533309078	chr5:29420169-29420170	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs551561403	chr5:29420174-29420175	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs191881071	chr5:29420182-29420183	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs566595967	chr5:29420193-29420194	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs13186171	chr5:29420228-29420229	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs16874647	chr5:29420239-29420240	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs567527824	chr5:29420246-29420247	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs79714174	chr5:29425679-29425680	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs78405040	chr5:29425681-29425682	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs75749169	chr5:29425695-29425696	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs562132460	chr5:29425709-29425710	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs78861575	chr5:29425710-29425711	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs76158438	chr5:29425716-29425717	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs76356137	chr5:29425721-29425722	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs139149003	chr5:29425727-29425728	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs56001827	chr5:29425753-29425754	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs72747455	chr5:29425754-29425755	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs146693568	chr5:29425761-29425762	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs551450862	chr5:29425769-29425770	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs140089067	chr5:29425774-29425775	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs145512202	chr5:29425778-29425779	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs73748942	chr5:29425781-29425782	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs185839538	chr5:29425795-29425796	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs75184684	chr5:29429207-29429208	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs79844075	chr5:29429211-29429212	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs77131230	chr5:29429223-29429224	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs559210752	chr5:29429249-29429250	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs571057190	chr5:29429257-29429258	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs75906092	chr5:29429279-29429280	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs112661984	chr5:29429286-29429287	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs76193216	chr5:29429295-29429296	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs534783495	chr5:29429307-29429308	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs79781127	chr5:29429312-29429313	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs78033243	chr5:29429341-29429342	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs36185642	chr5:29429346-29429347	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs80171359	chr5:29429349-29429350	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs72749314	chr5:29429362-29429363	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs115619012	chr5:29429396-29429397	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs533447854	chr5:29431734-29431735	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
41	rs386686706	chr5:29431741-29431742	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
42	rs10461858	chr5:29431743-29431744	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
43	rs368857933	chr5:29431760-29431761	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
44	rs371648062	chr5:29431771-29431772	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
45	rs73082671	chr5:29431781-29431782	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
46	rs566853597	chr5:29431782-29431783	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
47	rs527724165	chr5:29431788-29431789	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
48	rs10461859	chr5:29431793-29431794	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
49	rs142381117	chr5:29431804-29431805	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
50	rs72749330	chr5:29431836-29431837	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Non-small cell lung cancer	20864512	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Multiple myeloma	17550852	CNVD
prenatal diagnosis	22389664	CNVD
Bladder cancer	21909424	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Breast cancer	21858162	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Cancer	16751803	CNVD
Breast cancer	16608533	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Intellectual disability	22102821	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Non-small cell lung cancer	19010865	CNVD
Glioblastoma multiforme	22286061	CNVD
Compulsive disorder	18923513	CNVD
Epilepsy	18923513	CNVD
Prader-willi syndrome	18923513	CNVD
small cell lung cancer	20016488	CNVD
Ovarian cancer	21720365	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21364760	CNVD
Breast cancer	20409316	CNVD
Medulloblastoma	19270706	CNVD
Breast cancer	19553991	CNVD
Lung cancer	19553991	CNVD
Melanoma	19553991	CNVD
Ovarian cancer	19553991	CNVD
Prostate cancer	19553991	CNVD
Non-small cell lung cancer	17156491	CNVD
Breast cancer	17133270	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:29429200-29429400	ZNF genes & repeats	Pancreas	Pancrea
2	chr5:29433000-29433200	Enhancers	Aorta	Aorta
3	chr5:29450400-29450800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr5:29456800-29461400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr5:29461200-29461600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr5:29461200-29461600	Enhancers	Brain Inferior Temporal Lobe	brain
7	chr5:29461400-29461800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr5:29461600-29462800	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr5:29461800-29467000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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