Variant report

Variant	nsv585869
Chromosome Location	chr20:29472296-29505893
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DEFB116-8	chr20:29472900-29473142	NONHSAT079262
2	lnc-DEFB116-8	chr20:29480007-29480099	NONHSAT079262
3	lnc-DEFB116-8	chr20:29480482-29480644	NONHSAT079262

Extended variants
information (count: 72 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:72 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575057754	chr20:29472949-29472950	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs199957005	chr20:29472973-29472974	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs75278878	chr20:29476425-29476426	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs34752974	chr20:29476447-29476448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs148877895	chr20:29476491-29476492	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs75225533	chr20:29476502-29476503	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs79282599	chr20:29476511-29476512	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs147051720	chr20:29476518-29476519	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs80080287	chr20:29476582-29476583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs564524881	chr20:29476588-29476589	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs574911165	chr20:29476618-29476619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs199670951	chr20:29476622-29476623	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs56396817	chr20:29476625-29476626	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs79208323	chr20:29476636-29476637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs563646278	chr20:29476647-29476648	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs369868480	chr20:29476664-29476665	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs73237586	chr20:29476673-29476674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs549304719	chr20:29476708-29476709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs35752094	chr20:29476715-29476716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs35329979	chr20:29476721-29476722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs34981700	chr20:29476784-29476785	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs34453226	chr20:29476793-29476794	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs6141148	chr20:29476804-29476805	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs34213529	chr20:29476830-29476831	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs186389768	chr20:29476837-29476838	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs35710810	chr20:29476844-29476845	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs34986863	chr20:29476854-29476855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs146009587	chr20:29476875-29476876	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs139509194	chr20:29476911-29476912	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs2890252	chr20:29476929-29476930	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs372319146	chr20:29476932-29476933	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs35434755	chr20:29476937-29476938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs6057476	chr20:29476953-29476954	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs113393890	chr20:29476967-29476968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs34095136	chr20:29476981-29476982	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs550853884	chr20:29476992-29476993	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs202059865	chr20:29476995-29476996	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs567558152	chr20:29477014-29477015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs536598537	chr20:29477034-29477035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs2379793	chr20:29477043-29477044	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs552874113	chr20:29477045-29477046	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs528333456	chr20:29477048-29477049	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs2379792	chr20:29477069-29477070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs2379791	chr20:29477071-29477072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs148690408	chr20:29477096-29477097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs4010697	chr20:29477111-29477112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs4010722	chr20:29477114-29477115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs4010721	chr20:29477118-29477119	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs73904602	chr20:29477122-29477123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs79310098	chr20:29477127-29477128	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Gastric cancer	17908304	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Colorectal cancer	21645411	CNVD
Autism	22495311	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Chordoma	18071362	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21806811	CNVD
Melanoma	21693616	CNVD
Astrocytoma	17387387	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
colon cancer	17210682	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	22028636	CNVD
Breast cancer	21264507	CNVD
Thyroid cancer	19087340	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Soft tissue tumor	16732325	CNVD
Colorectal cancer	19359472	CNVD
Gastric cancer	17167181	CNVD
Myeloproliferative neoplasm	19047681	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	22860045	CNVD
Ovarian cancer	20844748	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	17603634	CNVD
Melanoma	18172304	CNVD
Breast cancer	16608533	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
early-passage human iPS cells	21368824	CNVD
Lung cancer	18438408	CNVD
Gastric cancer	16891809	CNVD
Prostate cancer	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Oral cancer	21386901	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Amyotrophic lateral sclerosis	20688871	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:29476400-29477200	Enhancers	Dnd41	blood
2	chr20:29476600-29477000	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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