Variant report

Variant	nsv983717
Chromosome Location	chr13:65019497-65026263
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:65020257..65021157-chr13:66212532..66213123,2	MCF-7	breast:

Extended variants
information (count: 187 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:187 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371307003	chr13:65021656-65021657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs190581965	chr13:65021702-65021703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs73504941	chr13:65021739-65021740	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs376730166	chr13:65021818-65021819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs193038914	chr13:65021824-65021825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs529908363	chr13:65021838-65021839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs79634567	chr13:65021857-65021858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs201374842	chr13:65021863-65021864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs61951438	chr13:65021865-65021866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs184577815	chr13:65021921-65021922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs369707796	chr13:65021938-65021939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs189001720	chr13:65021959-65021960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs139377106	chr13:65021970-65021971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs555139189	chr13:65021988-65021989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs558235829	chr13:65021990-65021991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs573654746	chr13:65022003-65022004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs534671040	chr13:65022024-65022025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs9598795	chr13:65022031-65022032	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs577537028	chr13:65022077-65022078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs545007131	chr13:65022098-65022099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs564813763	chr13:65022101-65022102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs545015383	chr13:65022102-65022103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs544033978	chr13:65022169-65022170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs537433373	chr13:65022194-65022195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs562269109	chr13:65022218-65022219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs529385595	chr13:65022227-65022228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs547843330	chr13:65022286-65022287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs559569561	chr13:65022293-65022294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs181317576	chr13:65022335-65022336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs556720674	chr13:65022355-65022356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs551352386	chr13:65022357-65022358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs575256557	chr13:65022392-65022393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs111710347	chr13:65022411-65022412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs569660939	chr13:65022425-65022426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs185451481	chr13:65022505-65022506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs548772716	chr13:65022520-65022521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs574251789	chr13:65022535-65022536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs535040811	chr13:65022545-65022546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs553067743	chr13:65022595-65022596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs111552531	chr13:65022598-65022599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs538687377	chr13:65022599-65022600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs578076362	chr13:65022622-65022623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs556953083	chr13:65022665-65022666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs76410631	chr13:65022690-65022691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs9528766	chr13:65022735-65022736	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs75530109	chr13:65022754-65022755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs369324946	chr13:65022809-65022810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs563035108	chr13:65022905-65022906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs189039859	chr13:65022924-65022925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs541248229	chr13:65022967-65022968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
HIV/AIDS	22032296	CNVD
Prostate cancer	16705090	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	CNVD
Burkitt''s lymphoma	18698080	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	21518781	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	19359472	CNVD
Intracranial aneurysm	19064780	CNVD
Breast cancer	19287154	CNVD
Acute myeloid leukemia	18379011	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Multiple myeloma	17077331	CNVD
Ependymoma	16718352	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Squamous cell cancer	20885788	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Thyroid cancer	19087340	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Prostate cancer	16573809	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	17245344	CNVD
Prostate cancer	18632612	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Merkel cell carcinoma	19020549	CNVD
Basal cell lymphoma	17053054	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21858162	CNVD
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Gastric cancer	17908304	CNVD
Glioblastoma multiforme	21750150	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Breast cancer	17393978	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Colorectal cancer	16774939	CNVD
Adenoid cystic carcinoma	17372589	CNVD
abnormal development	18461090	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:65021600-65021800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr13:65021800-65038800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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