Variant report

Variant	nsv970308
Chromosome Location	chr6:142782758-142791470
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	chr6:142787896..142790347-chr6:142791390..142792958,2	K562	blood:
2	chr6:142787896..142790347-chr6:142791390..142792958,2	K562	blood:

Extended variants
information (count: 67 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:67 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563197510	chr6:142782866-142782867	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs570015508	chr6:142782992-142782993	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs537090983	chr6:142783016-142783017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs576701110	chr6:142783042-142783043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs116362598	chr6:142783084-142783085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs138241383	chr6:142783089-142783090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs184868061	chr6:142783127-142783128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs574721133	chr6:142783144-142783145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs571361833	chr6:142783162-142783163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs534158468	chr6:142783202-142783203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs13198644	chr6:142783233-142783234	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs377651432	chr6:142783241-142783242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs563869089	chr6:142783254-142783255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs530527761	chr6:142783267-142783268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs116134675	chr6:142783306-142783307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs370692197	chr6:142783308-142783309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs142837769	chr6:142783323-142783324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs542143136	chr6:142783330-142783331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs188107501	chr6:142783345-142783346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs546990883	chr6:142783460-142783461	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs568237205	chr6:142783526-142783527	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs372905658	chr6:142783545-142783546	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs529134576	chr6:142783561-142783562	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs118169864	chr6:142783562-142783563	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs569103802	chr6:142783587-142783588	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs566881729	chr6:142783597-142783598	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs537411748	chr6:142783654-142783655	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs536156562	chr6:142783668-142783669	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs114800366	chr6:142783672-142783673	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs549634369	chr6:142783690-142783691	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs570584703	chr6:142783715-142783716	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs534773282	chr6:142783738-142783739	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs569825875	chr6:142783766-142783767	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs35722819	chr6:142783775-142783776	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs180907241	chr6:142783799-142783800	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs185470638	chr6:142783836-142783837	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs189454293	chr6:142783914-142783915	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs557588677	chr6:142783915-142783916	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs575855027	chr6:142783927-142783928	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs545746834	chr6:142783955-142783956	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs564090861	chr6:142783960-142783961	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs572901589	chr6:142783969-142783970	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs540313676	chr6:142784013-142784014	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs561805205	chr6:142784024-142784025	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs529082593	chr6:142784034-142784035	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs550504407	chr6:142784044-142784045	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs562768728	chr6:142784066-142784067	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs75917836	chr6:142784123-142784124	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs146103573	chr6:142784196-142784197	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs553311736	chr6:142791056-142791057	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Autism	22495311	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
Gastric cancer	17908304	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
Colorectal cancer	16272173	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
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Follicular lymphoma	18703704	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
Breast cancer	21364760	CNVD
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute monocytic leukemia	16498392	CNVD
Endocrine pancreatic tumor	17914106	CNVD
Soft tissue tumor	16732325	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
craniofacial dysmorphism	21918468	CNVD
Burkitt''s lymphoma	19759907	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:142766200-142782800	Weak transcription	NHLF	lung
2	chr6:142779200-142783400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr6:142782800-142783000	Enhancers	NHLF	lung
4	chr6:142783400-142784200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr6:142791000-142792200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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