Variant report

Variant	nsv980583
Chromosome Location	chr5:120340280-120341352
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:33 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189608121	chr5:120340352-120340353	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs115813106	chr5:120340366-120340367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs371722084	chr5:120340394-120340395	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs545200303	chr5:120340420-120340421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs530570308	chr5:120340433-120340434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs180820634	chr5:120340569-120340570	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs530797477	chr5:120340592-120340593	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs140191833	chr5:120340615-120340616	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs35517374	chr5:120340635-120340636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs562510300	chr5:120340640-120340641	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs567601285	chr5:120340647-120340648	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs34174765	chr5:120340680-120340681	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs184795863	chr5:120340682-120340683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs150073109	chr5:120340707-120340708	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs571388495	chr5:120340762-120340763	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs35744358	chr5:120340819-120340820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs7728403	chr5:120340848-120340849	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs17147209	chr5:120340863-120340864	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs369223016	chr5:120340904-120340905	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs546523683	chr5:120340912-120340913	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs536904737	chr5:120340943-120340944	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs564761350	chr5:120340951-120340952	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs554961677	chr5:120340971-120340972	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs144383941	chr5:120340999-120341000	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs534584978	chr5:120341034-120341035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs553132321	chr5:120341101-120341102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs577783846	chr5:120341126-120341127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs117797508	chr5:120341127-120341128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs116735062	chr5:120341160-120341161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs534546171	chr5:120341195-120341196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs148725810	chr5:120341212-120341213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs73262714	chr5:120341234-120341235	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs542952662	chr5:120341323-120341324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
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
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
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Glaucoma	21310917	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:120338600-120340600	Enhancers	Dnd41	blood
2	chr5:120340200-120341000	Enhancers	HUVEC	blood vessel
3	chr5:120340600-120343600	Weak transcription	Dnd41	blood

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