Variant report

Variant	nsv511893
Chromosome Location	chr6:66274779-66278085
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 141 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:141 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550640774	chr6:66274820-66274821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs201186582	chr6:66274856-66274857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs139800047	chr6:66274867-66274868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs369921536	chr6:66274878-66274879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs373390784	chr6:66274908-66274909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs377449205	chr6:66274914-66274915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs540898007	chr6:66274945-66274946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs560786445	chr6:66274946-66274947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs529651737	chr6:66275044-66275045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs549535777	chr6:66275046-66275047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs536214076	chr6:66275218-66275219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs139734872	chr6:66275230-66275231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs370462391	chr6:66275263-66275264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs576624766	chr6:66275294-66275295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs143201047	chr6:66275298-66275299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs151113462	chr6:66275303-66275304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs371134985	chr6:66275312-66275313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs539068653	chr6:66275317-66275318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs140035799	chr6:66275335-66275336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs183028485	chr6:66275353-66275354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs535405395	chr6:66275359-66275360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs187643600	chr6:66275394-66275395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs534501219	chr6:66275428-66275429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs535314794	chr6:66275436-66275437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs192371216	chr6:66275463-66275464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs149852333	chr6:66275514-66275515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs557988659	chr6:66275537-66275538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs55792659	chr6:66275561-66275562	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs372948658	chr6:66275620-66275621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs183886603	chr6:66275628-66275629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs114647625	chr6:66275630-66275631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs542994096	chr6:66275653-66275654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs187751856	chr6:66275658-66275659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs377660493	chr6:66275674-66275675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs377399242	chr6:66275688-66275689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs141766602	chr6:66275693-66275694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs145420513	chr6:66275719-66275720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs147701030	chr6:66275744-66275745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs532891745	chr6:66275761-66275762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs546184658	chr6:66275767-66275768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs111330384	chr6:66275768-66275769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs12198506	chr6:66275792-66275793	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs549008602	chr6:66275799-66275800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs71572536	chr6:66275801-66275802	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs9453332	chr6:66275802-66275803	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs371290915	chr6:66275847-66275848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs184624074	chr6:66275862-66275863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs188471740	chr6:66275896-66275897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs374339373	chr6:66275970-66275971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs79190515	chr6:66275988-66275989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	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
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
Breast cancer	21364760	CNVD
Prostate cancer	16573809	CNVD
Ovarian cancer	19835627	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Dyslexia	22102821	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	20164919	CNVD
Retinitis pigmentosa	21519034	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:66268400-66277600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr6:66276000-66276600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
3	chr6:66276200-66276800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
4	chr6:66276200-66276800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr6:66276600-66277400	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr6:66276800-66277800	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr6:66276800-66278600	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr6:66277400-66278000	Enhancers	H1 Cell Line	embryonic stem cell
9	chr6:66277400-66279200	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr6:66277400-66279200	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr6:66277600-66277800	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr6:66277600-66278000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr6:66277600-66278600	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr6:66277600-66279600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr6:66277800-66278200	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr6:66277800-66278200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
17	chr6:66278000-66278800	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr6:66278000-66279400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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