Variant report

Variant	nsv885991
Chromosome Location	chr6:63726777-63786599
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:63726588..63729343-chr6:63730639..63732811,2	K562	blood:
2	chr6:63775743..63776456-chr6:63981994..63982859,3	MCF-7	breast:
3	chr6:63726588..63729343-chr6:63730639..63732811,2	K562	blood:

Extended variants
information (count: 1113 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:1113 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12216054	chr6:63726777-63726778	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs529526963	chr6:63726780-63726781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs550920522	chr6:63726787-63726788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs563093644	chr6:63726844-63726845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs532924742	chr6:63726845-63726846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs184985705	chr6:63726881-63726882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs12193906	chr6:63726898-63726899	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs145102608	chr6:63726937-63726938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs533790323	chr6:63726951-63726952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs192492724	chr6:63726976-63726977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs13201232	chr6:63727032-63727033	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs146891764	chr6:63727068-63727069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs556133508	chr6:63727094-63727095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs568193958	chr6:63727109-63727110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs538415822	chr6:63727113-63727114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs557833285	chr6:63727156-63727157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs140720334	chr6:63727176-63727177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs575203759	chr6:63727182-63727183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs540265712	chr6:63727197-63727198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs561724855	chr6:63727202-63727203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs145859145	chr6:63727205-63727206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs544878712	chr6:63727223-63727224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs116622206	chr6:63727224-63727225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs114266623	chr6:63727225-63727226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs183815781	chr6:63727298-63727299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs148091384	chr6:63727329-63727330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs527369131	chr6:63727332-63727333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs28776012	chr6:63727336-63727337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs13217379	chr6:63727343-63727344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs188686517	chr6:63727348-63727349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs191479124	chr6:63727351-63727352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs567269719	chr6:63727402-63727403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs531549825	chr6:63727411-63727412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs550060164	chr6:63727416-63727417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs113236920	chr6:63727433-63727434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs182742313	chr6:63727460-63727461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs553517484	chr6:63727502-63727503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs533507517	chr6:63727525-63727526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs542830255	chr6:63727540-63727541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs187308053	chr6:63727575-63727576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs114940746	chr6:63727611-63727612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs555380995	chr6:63727617-63727618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs191706370	chr6:63727661-63727662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs572980511	chr6:63727674-63727675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs182486214	chr6:63727727-63727728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs556836090	chr6:63727754-63727755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs9343533	chr6:63727757-63727758	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs187567564	chr6:63727762-63727763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs560650319	chr6:63727833-63727834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs141825869	chr6:63727843-63727844	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
Cancer	20164920	CNVD
Prostate cancer	16573809	CNVD
Ovarian cancer	19835627	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
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:63722600-63746000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr6:63743800-63744200	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr6:63762400-63763600	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr6:63762600-63762800	Enhancers	HepG2	liver
5	chr6:63762600-63763800	Active TSS	iPS-15b Cell Line	embryonic stem cell
6	chr6:63762800-63763400	Active TSS	H9 Cell Line	embryonic stem cell
7	chr6:63762800-63763400	Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr6:63762800-63763400	Active TSS	HUES64 Cell Line	embryonic stem cell
9	chr6:63762800-63763600	Active TSS	HepG2	liver
10	chr6:63763000-63763200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr6:63763000-63763400	Active TSS	HUES48 Cell Line	embryonic stem cell
12	chr6:63763200-63763400	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr6:63763400-63763600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr6:63763600-63763800	Flanking Active TSS	HepG2	liver
15	chr6:63763800-63764200	Enhancers	HepG2	liver
16	chr6:63768800-63769000	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr6:63776200-63776600	Enhancers	Fetal Intestine Large	intestine
18	chr6:63776200-63776600	Enhancers	Fetal Intestine Small	intestine

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