Variant report

Variant	nsv970065
Chromosome Location	chr6:147771990-147774740
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	chr6:147773926..147776713-chr6:147779458..147781674,2	K562	blood:
2	chr6:147771342..147773126-chr6:147787033..147789085,2	K562	blood:

Extended variants
information (count: 125 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:125 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549556669	chr6:147772015-147772016	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs149968719	chr6:147772016-147772017	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs549485350	chr6:147772041-147772042	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs145104173	chr6:147772067-147772068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs537162833	chr6:147772079-147772080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs368015987	chr6:147772092-147772093	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs556608369	chr6:147772127-147772128	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs149073951	chr6:147772133-147772134	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs9390467	chr6:147772142-147772143	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs185566725	chr6:147772150-147772151	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs36075003	chr6:147772189-147772190	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs375903771	chr6:147772195-147772196	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs146006546	chr6:147772206-147772207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs138703260	chr6:147772219-147772220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs527616743	chr6:147772234-147772235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs561931456	chr6:147772246-147772247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs575312345	chr6:147772251-147772252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs368895010	chr6:147772252-147772253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs645207	chr6:147772258-147772259	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs547012164	chr6:147772265-147772266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs560240526	chr6:147772340-147772341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs538610689	chr6:147772351-147772352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs549374204	chr6:147772357-147772358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs141262875	chr6:147772362-147772363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs538032134	chr6:147772382-147772383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs146924664	chr6:147772383-147772384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs570204616	chr6:147772385-147772386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs539094805	chr6:147772387-147772388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs80353695	chr6:147772397-147772398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs566306479	chr6:147772399-147772400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs189933281	chr6:147772424-147772425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs535757079	chr6:147772431-147772432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs12665521	chr6:147772436-147772437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs137952243	chr6:147772498-147772499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs562262109	chr6:147772509-147772510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs544406344	chr6:147772511-147772512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs576285299	chr6:147772526-147772527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs558329810	chr6:147772548-147772549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs578146143	chr6:147772551-147772552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs540690054	chr6:147772573-147772574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs73576551	chr6:147772602-147772603	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs182746341	chr6:147772608-147772609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs543330604	chr6:147772661-147772662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs375498083	chr6:147772666-147772667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs188914790	chr6:147772726-147772727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs12216479	chr6:147772728-147772729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs193245020	chr6:147772730-147772731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs183632519	chr6:147772838-147772839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs532875352	chr6:147772875-147772876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs116410575	chr6:147772949-147772950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
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
Gastric cancer	17908304	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
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	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
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Endocrine pancreatic tumor	17914106	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD
Cancer	20164919	CNVD

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:147769200-147773400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr6:147770000-147772200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr6:147770000-147773400	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr6:147770200-147773200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr6:147770400-147773200	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr6:147770400-147773400	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr6:147770600-147773400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr6:147770600-147773600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr6:147771000-147773200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr6:147771000-147773200	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr6:147771000-147773400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr6:147771000-147774600	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr6:147771000-147774600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr6:147771000-147774600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr6:147771000-147780800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr6:147771600-147772200	Enhancers	K562	blood
17	chr6:147772200-147774600	Weak transcription	K562	blood
18	chr6:147772200-147776000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr6:147773200-147774600	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr6:147773200-147774800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr6:147773200-147774800	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr6:147773200-147775000	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr6:147773400-147773800	Enhancers	H9 Cell Line	embryonic stem cell
24	chr6:147773400-147774000	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr6:147773400-147774000	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr6:147773400-147774800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr6:147773400-147775000	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr6:147773400-147775000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr6:147773600-147774800	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr6:147774400-147775600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr6:147774600-147774800	Enhancers	H1 Cell Line	embryonic stem cell
32	chr6:147774600-147774800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr6:147774600-147775400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr6:147774600-147775400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr6:147774600-147775600	Enhancers	K562	blood

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