Variant report

Variant	nsv970346
Chromosome Location	chr6:114532640-114537121
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 149 )
Associated
traits (count: 116 )

Variant overlapped rSNPs/rCNVs (count:149 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150219614	chr6:114532667-114532668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs114872004	chr6:114532688-114532689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs536473602	chr6:114532692-114532693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs554351096	chr6:114532700-114532701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs34626177	chr6:114532713-114532714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs182868021	chr6:114532740-114532741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs568763014	chr6:114532765-114532766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs77860550	chr6:114532817-114532818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs185387197	chr6:114532839-114532840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs571000372	chr6:114532892-114532893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs576438770	chr6:114532905-114532906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs541315058	chr6:114533056-114533057	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs111302200	chr6:114533075-114533076	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs148925177	chr6:114533092-114533093	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs145654454	chr6:114533100-114533101	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs189842724	chr6:114533107-114533108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs138462841	chr6:114533162-114533163	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs370426458	chr6:114533200-114533201	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs557546716	chr6:114533220-114533221	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs115429471	chr6:114533243-114533244	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs143078402	chr6:114533309-114533310	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs528537606	chr6:114533331-114533332	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs146110335	chr6:114533355-114533356	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs36077900	chr6:114533492-114533493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs566012162	chr6:114533538-114533539	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs536167879	chr6:114533571-114533572	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs575704012	chr6:114533581-114533582	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs7762261	chr6:114533621-114533622	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs536752983	chr6:114533681-114533682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs182164995	chr6:114533717-114533718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs558270788	chr6:114533742-114533743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs148352504	chr6:114533772-114533773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs540653994	chr6:114533846-114533847	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs200518125	chr6:114533897-114533898	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs558091193	chr6:114533972-114533973	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs537717076	chr6:114533974-114533975	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs201703710	chr6:114533976-114533977	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs553237623	chr6:114533994-114533995	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs555808793	chr6:114534067-114534068	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs377058839	chr6:114534077-114534078	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs187931187	chr6:114534097-114534098	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs141548246	chr6:114534103-114534104	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs9488342	chr6:114534109-114534110	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs546311322	chr6:114534124-114534125	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs36124514	chr6:114534137-114534138	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs528477127	chr6:114534167-114534168	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs546980860	chr6:114534196-114534197	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs540674362	chr6:114534204-114534205	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs193002472	chr6:114534236-114534237	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs548197526	chr6:114534255-114534256	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:116)

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
Leukemia	18688285	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
Chronic lymphocytic leukemia	20421269	CNVD
Burkitt''s lymphoma	18698080	CNVD
Ovarian cancer	21720365	CNVD
Basal cell lymphoma	17170743	CNVD
Prostate cancer	16573809	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21785460	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Cancer	20164920	CNVD
Breast cancer	21364760	CNVD
Chordoma	21602918	CNVD
Kartagener syndrome	16639409	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Systemic lupus erythematosus	19220326	CNVD
Cancer	17160897	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Acute lymphoblastic leukemia	17229543	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
Urothelial carcinoma	21177765	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:114516000-114536000	Weak transcription	HSMMtube	muscle
2	chr6:114517200-114537000	Weak transcription	Brain Substantia Nigra	brain
3	chr6:114518200-114546600	Weak transcription	HepG2	liver
4	chr6:114525000-114538000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr6:114527400-114533000	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr6:114527400-114533800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr6:114527400-114534200	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr6:114527800-114539000	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr6:114532000-114536600	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr6:114533000-114533200	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr6:114533200-114533400	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr6:114533200-114533600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr6:114533600-114537200	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr6:114533800-114534200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr6:114534000-114539400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr6:114534200-114534400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
17	chr6:114534200-114534400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
18	chr6:114534400-114541000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr6:114534400-114576000	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr6:114536000-114540800	Enhancers	HSMMtube	muscle
21	chr6:114536600-114537000	Enhancers	Psoas Muscle	Psoas
22	chr6:114536600-114537200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr6:114536600-114537600	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr6:114537000-114537200	Enhancers	Brain Substantia Nigra	brain
25	chr6:114537000-114538000	Weak transcription	Psoas Muscle	Psoas

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