Variant report

Variant	nsv1030643
Chromosome Location	chr6:93084898-93096186
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:93080870..93083476-chr6:93091512..93093788,2	MCF-7	breast:
2	chr6:93090182..93092480-chr6:93105991..93108734,2	MCF-7	breast:

Extended variants
information (count: 132 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:132 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2757030	chr6:93084898-93084899	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs541809745	chr6:93084908-93084909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs115344274	chr6:93084961-93084962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs145858212	chr6:93084963-93084964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs559104795	chr6:93084996-93084997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs551080683	chr6:93085034-93085035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs140733495	chr6:93085078-93085079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs575648517	chr6:93085081-93085082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs532204002	chr6:93085098-93085099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs369515594	chr6:93085101-93085102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs111423210	chr6:93085128-93085129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs145768447	chr6:93085191-93085192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs185612207	chr6:93085241-93085242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs138430936	chr6:93085242-93085243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs190185125	chr6:93085247-93085248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs79679106	chr6:93085251-93085252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs117338398	chr6:93085288-93085289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs556633087	chr6:93085355-93085356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs116491433	chr6:93085389-93085390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs565951352	chr6:93085414-93085415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs181623853	chr6:93085453-93085454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs553631168	chr6:93085484-93085485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs573428963	chr6:93085496-93085497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs542224703	chr6:93085497-93085498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs142415516	chr6:93085523-93085524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs530906244	chr6:93085546-93085547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs543173971	chr6:93085589-93085590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs564565831	chr6:93085599-93085600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs11966890	chr6:93085668-93085669	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs563064054	chr6:93085681-93085682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs603275	chr6:93085735-93085736	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs603244	chr6:93085765-93085766	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs548056376	chr6:93085802-93085803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs184177102	chr6:93085890-93085891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs536638225	chr6:93085892-93085893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs550270210	chr6:93085897-93085898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs570165497	chr6:93085904-93085905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs540043866	chr6:93085913-93085914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs596025	chr6:93085919-93085920	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs188560036	chr6:93085964-93085965	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs555048029	chr6:93085966-93085967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs143082350	chr6:93085967-93085968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs556092298	chr6:93085980-93085981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs575750136	chr6:93086007-93086008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs143200945	chr6:93086012-93086013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs386407947	chr6:93086013-93086014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs372503668	chr6:93086014-93086015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs386407948	chr6:93086015-93086016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs544579373	chr6:93086023-93086024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs564576300	chr6:93086114-93086115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

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
Endometrioid adenocarcinoma	16974079	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
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	17443227	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
Prostate cancer	16573809	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
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	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
Prostate cancer	17245344	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Cancer	20164920	CNVD
Burkitt''s lymphoma	20823134	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	21364760	CNVD
Developmental delay	19490664	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Adrenocortical carcinoma	18281524	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Neuropathy	19664229	CNVD
Neurodevelopmental disorder	22521361	CNVD
Burkitt''s lymphoma	18698080	CNVD
Ovarian cancer	21720365	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:93075200-93085800	Weak transcription	Fetal Stomach	stomach
2	chr6:93085800-93086000	Enhancers	Fetal Stomach	stomach
3	chr6:93086000-93086600	Weak transcription	Fetal Stomach	stomach
4	chr6:93086200-93086800	Enhancers	Brain Substantia Nigra	brain
5	chr6:93086400-93086800	Enhancers	Brain Cingulate Gyrus	brain
6	chr6:93086400-93087200	Enhancers	Fetal Heart	heart
7	chr6:93086400-93087600	Enhancers	Rectal Smooth Muscle	rectum
8	chr6:93086600-93086800	Enhancers	Brain Inferior Temporal Lobe	brain
9	chr6:93086600-93087000	Enhancers	Fetal Lung	lung
10	chr6:93086600-93087600	Enhancers	Colon Smooth Muscle	Colon
11	chr6:93086600-93087800	Enhancers	Fetal Stomach	stomach

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