Variant report

Variant	nsv538268
Chromosome Location	chr6:62900450-62928906
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 297 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:297 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191800863	chr6:62900468-62900469	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs537045115	chr6:62900476-62900477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs555471712	chr6:62900486-62900487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs370364710	chr6:62900520-62900521	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs552501933	chr6:62900572-62900573	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs183690965	chr6:62900575-62900576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs148383067	chr6:62900582-62900583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs188357499	chr6:62900590-62900591	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs551082	chr6:62900591-62900592	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs58985768	chr6:62900603-62900604	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs141552489	chr6:62900604-62900605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs116414700	chr6:62900617-62900618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs182285029	chr6:62900645-62900646	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs557701473	chr6:62900649-62900650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs572874371	chr6:62900657-62900658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs540363587	chr6:62900721-62900722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs145638666	chr6:62900749-62900750	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs573928432	chr6:62900801-62900802	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs544375215	chr6:62900818-62900819	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs562648145	chr6:62900862-62900863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs533218272	chr6:62900864-62900865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs552308139	chr6:62900880-62900881	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs138210671	chr6:62900900-62900901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs528455989	chr6:62900974-62900975	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs368197975	chr6:62911218-62911219	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs532671358	chr6:62911226-62911227	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs192809197	chr6:62911282-62911283	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs570721101	chr6:62911347-62911348	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs563119824	chr6:62911442-62911443	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs150730449	chr6:62911473-62911474	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs530329763	chr6:62911527-62911528	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs541058008	chr6:62911549-62911550	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs184671607	chr6:62911560-62911561	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs139024475	chr6:62911565-62911566	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs187570241	chr6:62911616-62911617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs566125496	chr6:62911692-62911693	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs536462396	chr6:62911718-62911719	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs555119715	chr6:62911739-62911740	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs71568790	chr6:62911772-62911773	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs116192781	chr6:62911773-62911774	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs192514956	chr6:62911780-62911781	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs149913416	chr6:62911781-62911782	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs528043129	chr6:62911792-62911793	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs141309842	chr6:62921604-62921605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs150342263	chr6:62921668-62921669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs567689	chr6:62921711-62921712	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs528684364	chr6:62921761-62921762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs556970314	chr6:62921776-62921777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs576360114	chr6:62921802-62921803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs575224817	chr6:62921812-62921813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Lung cancer	19547694	CNVD
Myelofibrosis	22110671	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
Schizophrenia	23813976	CNVD
Tetralogy of Fallot	22912587	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Pancreatic cancer	17952125	CNVD
Autism	19492091	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:62899400-62900600	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr6:62899800-62901000	Enhancers	Primary B cells from peripheral blood	blood
3	chr6:62911200-62911600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr6:62911200-62911800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr6:62921600-62929600	Weak transcription	Primary B cells from cord blood	blood
6	chr6:62922800-62923200	Active TSS	A549	lung
7	chr6:62923000-62923400	Enhancers	Hela-S3	cervix
8	chr6:62923200-62923400	Flanking Active TSS	A549	lung
9	chr6:62925200-62925400	Active TSS	Ovary	ovary

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