Variant report

Variant	nsv603320
Chromosome Location	chr6:62925124-62927514
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 91 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:91 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551837	chr6:62925124-62925125	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs76939373	chr6:62925143-62925144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs565219224	chr6:62925148-62925149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs62414779	chr6:62925191-62925192	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs547694941	chr6:62925197-62925198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs565899455	chr6:62925247-62925248	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs116211673	chr6:62925250-62925251	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs143555435	chr6:62925279-62925280	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs569355888	chr6:62925308-62925309	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs536630731	chr6:62925335-62925336	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs558651478	chr6:62925337-62925338	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs546019578	chr6:62925398-62925399	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs185682229	chr6:62925420-62925421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs188892807	chr6:62925451-62925452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs534111261	chr6:62925465-62925466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs181686338	chr6:62925474-62925475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs541351	chr6:62925499-62925500	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs564580741	chr6:62925515-62925516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs577280	chr6:62925553-62925554	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs150971508	chr6:62925568-62925569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs543431428	chr6:62925628-62925629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs565254875	chr6:62925629-62925630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs577542	chr6:62925642-62925643	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs2216150	chr6:62925682-62925683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs529251420	chr6:62925696-62925697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs536605540	chr6:62925711-62925712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs144878959	chr6:62925712-62925713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs566141812	chr6:62925774-62925775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs138540741	chr6:62925778-62925779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs548509892	chr6:62925785-62925786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs184379184	chr6:62925787-62925788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs71568791	chr6:62925820-62925821	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs372746866	chr6:62925852-62925853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs570389219	chr6:62925942-62925943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs78188072	chr6:62925962-62925963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs553101867	chr6:62925963-62925964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs574727724	chr6:62925967-62925968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs145203472	chr6:62925993-62925994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs557320667	chr6:62926012-62926013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs567865	chr6:62926084-62926085	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs546043049	chr6:62926108-62926109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs137946758	chr6:62926115-62926116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs199713431	chr6:62926208-62926209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs569871449	chr6:62926223-62926224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs188422608	chr6:62926235-62926236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs541173268	chr6:62926254-62926255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs149471062	chr6:62926273-62926274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs144789546	chr6:62926287-62926288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs537272090	chr6:62926382-62926383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs541994253	chr6:62926409-62926410	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:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:62921600-62929600	Weak transcription	Primary B cells from cord blood	blood
2	chr6:62925200-62925400	Active TSS	Ovary	ovary

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