Variant report

Variant	nsv603353
Chromosome Location	chr6:63562515-63598357
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 2214 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:2214 , 50 per page) page: 1 2 3 4 5 6 7 ... 45

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12190145	chr6:63562515-63562516	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs192747762	chr6:63562533-63562534	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs182462133	chr6:63562564-63562565	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs573961548	chr6:63562580-63562581	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs567101590	chr6:63562618-63562619	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs189072015	chr6:63562630-63562631	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs563191716	chr6:63562640-63562641	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs578139182	chr6:63562642-63562643	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs545576788	chr6:63562649-63562650	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs560292363	chr6:63562654-63562655	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs527348732	chr6:63562659-63562660	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs549084955	chr6:63562662-63562663	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs560751289	chr6:63562677-63562678	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs531334737	chr6:63562682-63562683	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs149689734	chr6:63562710-63562711	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs549850371	chr6:63562714-63562715	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs12661499	chr6:63562727-63562728	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs115086853	chr6:63562763-63562764	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs547163527	chr6:63562803-63562804	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs566638086	chr6:63562821-63562822	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs534060246	chr6:63562836-63562837	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs193024718	chr6:63562851-63562852	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs537381098	chr6:63562872-63562873	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs538228965	chr6:63562877-63562878	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs556588301	chr6:63562878-63562879	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs539179818	chr6:63562909-63562910	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs145490250	chr6:63562916-63562917	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs142539225	chr6:63562919-63562920	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs560702874	chr6:63562952-63562953	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs572656985	chr6:63562986-63562987	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs542790515	chr6:63563001-63563002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs59235705	chr6:63563006-63563007	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs531220096	chr6:63563019-63563020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs144795018	chr6:63563032-63563033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs187681399	chr6:63563058-63563059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs192080173	chr6:63563082-63563083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs184286400	chr6:63563092-63563093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs565565892	chr6:63563096-63563097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs529832997	chr6:63563119-63563120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs369734967	chr6:63563163-63563164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs117780907	chr6:63563170-63563171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs76905024	chr6:63563171-63563172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs553080850	chr6:63563177-63563178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs113201294	chr6:63563193-63563194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs147961030	chr6:63563200-63563201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs539371001	chr6:63563202-63563203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs554502121	chr6:63563208-63563209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs572718221	chr6:63563213-63563214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs117436837	chr6:63563218-63563219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs554373674	chr6:63563275-63563276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Lung cancer	18438408	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	21364760	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Prostate cancer	16573809	CNVD
Ovarian cancer	19835627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Developmental delay	21147756	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:63561800-63563000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr6:63563000-63572400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr6:63571800-63572400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
4	chr6:63572400-63572600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr6:63572600-63579600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr6:63579600-63582400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr6:63582400-63589200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr6:63589200-63591800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr6:63591800-63596800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr6:63594000-63595200	Enhancers	A549	lung
11	chr6:63595200-63599200	Weak transcription	A549	lung
12	chr6:63596800-63597800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr6:63597800-63598200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr6:63598200-63603800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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