Variant report

Variant	nsv519008
Chromosome Location	chr5:111699317-111701910
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C5orf13-6	chr5:111699153-111699363	NONHSAT103226

Extended variants
information (count: 136 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:136 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs366180	chr5:111699317-111699318	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs74972623	chr5:111699326-111699327	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
3	rs199748158	chr5:111699330-111699331	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs148172317	chr5:111699332-111699333	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs566734113	chr5:111699344-111699345	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
6	rs534083986	chr5:111699383-111699384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs144047315	chr5:111699412-111699413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs145775893	chr5:111699427-111699428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs200489320	chr5:111699439-111699440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs148515084	chr5:111699440-111699441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs560513693	chr5:111699441-111699442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs201409455	chr5:111699442-111699443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs375220418	chr5:111699454-111699455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs138690038	chr5:111699470-111699471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs142695617	chr5:111699500-111699501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs537379578	chr5:111699509-111699510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs552520643	chr5:111699525-111699526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs564867269	chr5:111699556-111699557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs539041710	chr5:111699558-111699559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs554258683	chr5:111699628-111699629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs442947	chr5:111699641-111699642	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs575743692	chr5:111699676-111699677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs189559924	chr5:111699686-111699687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs143801355	chr5:111699706-111699707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs374953213	chr5:111699707-111699708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs542568282	chr5:111699714-111699715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs549873593	chr5:111699715-111699716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs61211890	chr5:111699716-111699717	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs58573160	chr5:111699717-111699718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs557937756	chr5:111699718-111699719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs576584920	chr5:111699747-111699748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs573151986	chr5:111699748-111699749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs113172729	chr5:111699762-111699763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs180947774	chr5:111699763-111699764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs540546270	chr5:111699786-111699787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs442777	chr5:111699810-111699811	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs576383114	chr5:111699826-111699827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs540672280	chr5:111699839-111699840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs406359	chr5:111699848-111699849	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs529831175	chr5:111699914-111699915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs541637010	chr5:111699926-111699927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs563468049	chr5:111699942-111699943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs530631802	chr5:111699948-111699949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs552457451	chr5:111699967-111699968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs570761257	chr5:111700000-111700001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs532545523	chr5:111700002-111700003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs547850104	chr5:111700003-111700004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs566022182	chr5:111700017-111700018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs536725156	chr5:111700047-111700048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs367895610	chr5:111700066-111700067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Colorectal cancer	16774939	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Myelofibrosis	22110671	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Colorectal cancer	21297112	CNVD
Prostate cancer	22341455	CNVD
Glioblastoma multiforme	22286061	CNVD
Prostate cancer	16461572	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:111684000-111702600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr5:111685200-111707000	Weak transcription	Ovary	ovary
3	chr5:111685200-111709800	Weak transcription	Aorta	Aorta
4	chr5:111689200-111702200	Weak transcription	Gastric	stomach
5	chr5:111689600-111708800	Weak transcription	Esophagus	oesophagus
6	chr5:111693800-111703200	Weak transcription	Right Ventricle	heart
7	chr5:111694000-111700800	Weak transcription	Left Ventricle	heart
8	chr5:111694000-111701800	Weak transcription	Right Atrium	heart
9	chr5:111700800-111701000	Enhancers	Left Ventricle	heart
10	chr5:111701000-111701800	Weak transcription	Left Ventricle	heart
11	chr5:111701200-111701600	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr5:111701400-111701600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr5:111701400-111701600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr5:111701400-111703600	Enhancers	Fetal Heart	heart
15	chr5:111701600-111712200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr5:111701800-111702600	Enhancers	Lung	lung
17	chr5:111701800-111704600	Enhancers	Right Atrium	heart
18	chr5:111701800-111704800	Enhancers	Left Ventricle	heart

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