Variant report

Variant	nsv980829
Chromosome Location	chr5:177164433-177165405
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:45 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201403241	chr5:177164441-177164442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs547949107	chr5:177164469-177164470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs79820182	chr5:177164491-177164492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs533666085	chr5:177164492-177164493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs139060669	chr5:177164505-177164506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs144001014	chr5:177164518-177164519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs146431445	chr5:177164551-177164552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs548634463	chr5:177164565-177164566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs370283104	chr5:177164589-177164590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs567149144	chr5:177164593-177164594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs534538958	chr5:177164618-177164619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs553118808	chr5:177164683-177164684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs577901316	chr5:177164696-177164697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs538877266	chr5:177164711-177164712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs55646207	chr5:177164743-177164744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs557874900	chr5:177164744-177164745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs2133721	chr5:177164750-177164751	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs576467990	chr5:177164768-177164769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs543952760	chr5:177164786-177164787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs2133722	chr5:177164812-177164813	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs562191473	chr5:177164813-177164814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs574164905	chr5:177164820-177164821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs541303139	chr5:177164863-177164864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs186711332	chr5:177164871-177164872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs2133723	chr5:177164878-177164879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs2173664	chr5:177164903-177164904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs552012090	chr5:177164956-177164957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs562960181	chr5:177164998-177164999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs4868589	chr5:177165002-177165003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs138410562	chr5:177165023-177165024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs60079150	chr5:177165027-177165028	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs567059609	chr5:177165029-177165030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs534708424	chr5:177165058-177165059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs143927504	chr5:177165071-177165072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs546526324	chr5:177165104-177165105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs193020766	chr5:177165106-177165107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs368125255	chr5:177165107-177165108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs557190694	chr5:177165122-177165123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs7380165	chr5:177165131-177165132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs537476358	chr5:177165157-177165158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs375061059	chr5:177165186-177165187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs528745139	chr5:177165260-177165261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs141572832	chr5:177165279-177165280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs547515991	chr5:177165280-177165281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs574230275	chr5:177165380-177165381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Glioma	20126413	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
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
Thyroid cancer	19087340	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Renal cell carcinoma	19377443	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18592004	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Prostate cancer	18632612	CNVD
epilepsy	18472482	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sotos syndrome	21572526	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Sotos syndrome	17561922	CNVD
Sotos syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Sotos syndrome	22470819	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Acute myeloid leukemia	18000384	CNVD
Sudden cardiac death	19188705	CNVD
Basal cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Lung cancer	17297452	CNVD
Cancer	20164920	CNVD
Autism	20841430	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Sotos syndrome	22283845	CNVD
Breast cancer	16272173	CNVD
Sotos syndrome	20503325	CNVD
Lung adenocarcinoma	17086460	CNVD
Congenital Hypertrichosis Syndrome	21636067	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	19181860	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ehlers-danlos syndrome	17576883	CNVD
Lung cancer	17086460	CNVD
Autism	19246517	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Ependymoma	20639864	CNVD
Non-syndromic sensorineural hearing loss	19212409	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:177163400-177167600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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