Variant report

Variant	nsv900339
Chromosome Location	chr13:64714831-64795587
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:64792758..64793744-chr7:131539225..131540176,2	MCF-7	breast:
2	chr13:64733418..64735180-chr13:64740431..64742208,2	MCF-7	breast:
3	chr13:64753621..64755784-chr13:64760416..64762529,2	K562	blood:
4	chr13:64475617..64476410-chr13:64728809..64729366,2	MCF-7	breast:
5	chr13:64753621..64755784-chr13:64760416..64762529,2	K562	blood:
6	chr13:64733418..64735180-chr13:64740431..64742208,2	MCF-7	breast:

Extended variants
information (count: 659 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:659 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571790636	chr13:64730212-64730213	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs9317391	chr13:64730216-64730217	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs563858190	chr13:64730265-64730266	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs531158825	chr13:64730334-64730335	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs201922698	chr13:64730335-64730336	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs375999294	chr13:64730371-64730372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs540943403	chr13:64730381-64730382	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs559559160	chr13:64730400-64730401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs61959270	chr13:64730421-64730422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs572586942	chr13:64730455-64730456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs563030428	chr13:64730500-64730501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs9598732	chr13:64730583-64730584	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs189440677	chr13:64730609-64730610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs567038064	chr13:64730614-64730615	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs534416168	chr13:64730664-64730665	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs76892481	chr13:64730667-64730668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs570934045	chr13:64730674-64730675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs537844946	chr13:64730704-64730705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs377062913	chr13:64730716-64730717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs529523586	chr13:64730730-64730731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs376159960	chr13:64730818-64730819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs576977416	chr13:64730836-64730837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs568244826	chr13:64730869-64730870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs569847120	chr13:64730891-64730892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs553665156	chr13:64730898-64730899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs9598733	chr13:64730937-64730938	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs181557193	chr13:64730972-64730973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs185696471	chr13:64730975-64730976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs576127528	chr13:64730977-64730978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs543047323	chr13:64730983-64730984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs550293198	chr13:64730998-64730999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs144696428	chr13:64731035-64731036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs78354434	chr13:64731038-64731039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs561750984	chr13:64731067-64731068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs568569273	chr13:64731080-64731081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs530312464	chr13:64731105-64731106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs530058459	chr13:64731126-64731127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs560770524	chr13:64731164-64731165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs140567927	chr13:64731179-64731180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs144410245	chr13:64731180-64731181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs201172280	chr13:64731215-64731216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs73197111	chr13:64731219-64731220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs189471775	chr13:64731271-64731272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs151187461	chr13:64731275-64731276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs71442621	chr13:64731342-64731343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs150332113	chr13:64731360-64731361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs527755583	chr13:64731387-64731388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs199990332	chr13:64731408-64731409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs553601351	chr13:64731414-64731415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs565643450	chr13:64731474-64731475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:64730200-64730800	Enhancers	HUVEC	blood vessel
2	chr13:64730800-64732600	Weak transcription	HUVEC	blood vessel
3	chr13:64732400-64732600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr13:64732600-64733000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr13:64732600-64734000	Enhancers	Muscle Satellite Cultured Cells	--
6	chr13:64732600-64734000	Enhancers	HUVEC	blood vessel
7	chr13:64733000-64733600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr13:64738600-64738800	Enhancers	Gastric	stomach
9	chr13:64743800-64745800	Enhancers	Muscle Satellite Cultured Cells	--
10	chr13:64745800-64747000	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr13:64747000-64747400	Enhancers	Muscle Satellite Cultured Cells	--
12	chr13:64760600-64761200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr13:64764600-64765000	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr13:64770800-64771000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr13:64771200-64779600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr13:64780600-64781000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr13:64780600-64781200	ZNF genes & repeats	Esophagus	oesophagus
18	chr13:64780600-64781400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr13:64780800-64781400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links