Variant report

Variant	nsv604562
Chromosome Location	chr6:120342199-120394156
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:120385474..120388281-chr6:120392055..120395872,3	K562	blood:
2	chr6:120385474..120388281-chr6:120392055..120395872,3	K562	blood:
3	chr6:120385733..120388673-chr6:120392055..120394693,3	K562	blood:
4	chr6:120385733..120388673-chr6:120392055..120394693,3	K562	blood:

Extended variants
information (count: 65 )
Associated
traits (count: 113 )

Variant overlapped rSNPs/rCNVs (count:65 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532207497	chr6:120352802-120352803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs9372575	chr6:120352811-120352812	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs531430026	chr6:120352815-120352816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs565686158	chr6:120352912-120352913	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs138496846	chr6:120352960-120352961	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs75644230	chr6:120352974-120352975	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs1111357	chr6:120353010-120353011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs73533070	chr6:120353043-120353044	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs556902925	chr6:120353063-120353064	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs576835296	chr6:120353074-120353075	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs571485177	chr6:120353084-120353085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs553427394	chr6:120353092-120353093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs538904067	chr6:120353204-120353205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs547455719	chr6:120353220-120353221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs190527127	chr6:120353307-120353308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs552714614	chr6:120353375-120353376	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs565687580	chr6:120353380-120353381	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs574749999	chr6:120353381-120353382	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs543752390	chr6:120353387-120353388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs73535036	chr6:120376200-120376201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs150735528	chr6:120376217-120376218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs548104359	chr6:120376219-120376220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs561981396	chr6:120376227-120376228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs552947351	chr6:120376228-120376229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs530725561	chr6:120376231-120376232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs183932865	chr6:120376288-120376289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs574877770	chr6:120376313-120376314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs761447	chr6:120376317-120376318	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs761446	chr6:120376390-120376391	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs546273875	chr6:120376514-120376515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs761445	chr6:120376555-120376556	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs536020221	chr6:120376586-120376587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs139082787	chr6:120376601-120376602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs528521787	chr6:120376617-120376618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs575847197	chr6:120376668-120376669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs545473632	chr6:120376692-120376693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs565205582	chr6:120376779-120376780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs538535141	chr6:120376791-120376792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs558528317	chr6:120376829-120376830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs578059089	chr6:120376835-120376836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs532442593	chr6:120376836-120376837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs144058080	chr6:120376845-120376846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs188221824	chr6:120376880-120376881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs541969954	chr6:120376944-120376945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs369786781	chr6:120377011-120377012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs146605805	chr6:120377015-120377016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs7746405	chr6:120377045-120377046	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs191866543	chr6:120377054-120377055	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs564074045	chr6:120377103-120377104	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs761444	chr6:120377151-120377152	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:113)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	22495311	CNVD
Gastric cancer	17908304	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
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
T-cell lymphomas	19863542	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Ependymoma	16718352	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	19242612	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Lung adenocarcinoma	21935476	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Burkitt''s lymphoma	18698080	CNVD
Ovarian cancer	21720365	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Cancer	20164920	CNVD
Breast cancer	21364760	CNVD
Chordoma	21602918	CNVD
Kartagener syndrome	16639409	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Follicular lymphoma	18703704	CNVD
Mental retardation	17621639	CNVD
Hypoplastic	20877625	CNVD
Hypotonia	20877625	CNVD
Mental retardation	20877625	CNVD
Microcephaly	20877625	CNVD
brachycephaly	20877625	CNVD
epicanthic folds	20877625	CNVD
micrognathia	20877625	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Metastatic melanoma	18483359	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	18698023	CNVD
Mental retardation	18854857	CNVD
Leukemia	18688285	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Liver carcinoma	19366792	CNVD
Breast cancer	21611746	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:120352800-120353400	Enhancers	HepG2	liver
2	chr6:120376200-120377000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr6:120377000-120377200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr6:120377200-120377400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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