Variant report

Variant	nsv981374
Chromosome Location	chr6:73293962-73308205
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:73292852..73295810-chr6:73304936..73306946,2	K562	blood:
2	chr6:73292852..73295810-chr6:73304936..73306946,2	K562	blood:
3	chr6:73299934..73301513-chr6:73301688..73303791,2	K562	blood:
4	chr6:73303155..73305514-chr6:73306318..73308143,2	K562	blood:
5	chr6:73303155..73305514-chr6:73306318..73308143,2	K562	blood:
6	chr6:73306231..73308470-chr6:73328760..73331273,2	K562	blood:
7	chr6:73299934..73301513-chr6:73301688..73303791,2	K562	blood:

Extended variants
information (count: 207 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:207 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548990898	chr6:73298002-73298003	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs567197317	chr6:73298020-73298021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs534666627	chr6:73298032-73298033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs1202095	chr6:73298033-73298034	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs187830315	chr6:73298040-73298041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs149256567	chr6:73298057-73298058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs557158780	chr6:73298058-73298059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs117598717	chr6:73298097-73298098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs191034031	chr6:73298119-73298120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs554943730	chr6:73298142-73298143	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs145228093	chr6:73298193-73298194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs183980375	chr6:73298226-73298227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs565259525	chr6:73298229-73298230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs577444276	chr6:73298254-73298255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs545210241	chr6:73298274-73298275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs77806753	chr6:73298285-73298286	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs188571877	chr6:73298291-73298292	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs193104630	chr6:73298313-73298314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs184816158	chr6:73298316-73298317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs186995799	chr6:73298371-73298372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs528091223	chr6:73298460-73298461	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs546647084	chr6:73298471-73298472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs570986483	chr6:73298481-73298482	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs117862861	chr6:73298485-73298486	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs550751147	chr6:73298489-73298490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs569153252	chr6:73298490-73298491	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs569307916	chr6:73298568-73298569	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs117315378	chr6:73298590-73298591	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs548543439	chr6:73298616-73298617	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs369783800	chr6:73298640-73298641	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs566832932	chr6:73298687-73298688	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs533921080	chr6:73298722-73298723	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs115918323	chr6:73298744-73298745	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs577409419	chr6:73298760-73298761	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs12529444	chr6:73298797-73298798	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs544764469	chr6:73298803-73298804	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs567153750	chr6:73298842-73298843	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs557146824	chr6:73298846-73298847	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs534526200	chr6:73298848-73298849	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs575520128	chr6:73298852-73298853	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs542873008	chr6:73298863-73298864	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs561046993	chr6:73298894-73298895	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs115412621	chr6:73298945-73298946	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs142457292	chr6:73298950-73298951	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs561777470	chr6:73298970-73298971	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs576930730	chr6:73299099-73299100	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs111376991	chr6:73299155-73299156	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs145960521	chr6:73299174-73299175	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs564577749	chr6:73299227-73299228	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs532072984	chr6:73299234-73299235	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

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
Endometrioid adenocarcinoma	16974079	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
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Lung cancer	18438408	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
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ovarian cancer	17437010	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Mental retardation	17124404	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Multiple myeloma	16616336	CNVD
Acute myeloid leukemia	16864856	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Breast cancer	20409316	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
Breast cancer	22522925	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:73298000-73299200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr6:73298200-73298600	Enhancers	Fetal Brain Female	brain
3	chr6:73298200-73298800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr6:73298200-73300600	Enhancers	Fetal Brain Male	brain
5	chr6:73298400-73299000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr6:73298400-73299000	Enhancers	Osteobl	bone
7	chr6:73298400-73299800	Enhancers	Fetal Lung	lung
8	chr6:73298600-73299000	Weak transcription	Fetal Brain Female	brain
9	chr6:73298600-73299400	Enhancers	Colon Smooth Muscle	Colon
10	chr6:73299000-73299400	Enhancers	Muscle Satellite Cultured Cells	--
11	chr6:73299000-73299600	Enhancers	Fetal Brain Female	brain
12	chr6:73301000-73301400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr6:73304000-73306200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr6:73307600-73307800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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