Variant report

Variant	nsv900353
Chromosome Location	chr13:65143938-65178318
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:65144443..65146895-chr13:65148818..65150999,2	MCF-7	breast:
2	chr13:65158685..65161029-chr13:65163105..65165098,2	MCF-7	breast:
3	chr13:65144443..65146895-chr13:65148818..65150999,2	MCF-7	breast:
4	chr13:65156439..65158958-chr13:65159138..65160900,2	K562	blood:
5	chr13:65158685..65161029-chr13:65163105..65165098,2	MCF-7	breast:
6	chr13:65156439..65158958-chr13:65159138..65160900,2	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35462764	chr13:65143938-65143939	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs2152671	chr13:65143939-65143940	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs116741612	chr13:65143947-65143948	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs117077624	chr13:65143986-65143987	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs557225890	chr13:65143988-65143989	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs575480739	chr13:65144014-65144015	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs542792917	chr13:65144028-65144029	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs370946411	chr13:65144031-65144032	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs561261360	chr13:65144045-65144046	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs528812144	chr13:65144079-65144080	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs67144067	chr13:65144091-65144092	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs140608387	chr13:65144109-65144110	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs532541652	chr13:65144111-65144112	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs181932421	chr13:65144126-65144127	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs2152672	chr13:65144143-65144144	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs529947718	chr13:65144148-65144149	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs138178093	chr13:65144652-65144653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs140421313	chr13:65144663-65144664	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs555167506	chr13:65144693-65144694	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs531243583	chr13:65144707-65144708	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs549382990	chr13:65144725-65144726	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs567690720	chr13:65144742-65144743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs536956162	chr13:65144746-65144747	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs567156617	chr13:65144761-65144762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs73506996	chr13:65144795-65144796	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs567100588	chr13:65144817-65144818	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs188278052	chr13:65144906-65144907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs191077038	chr13:65144915-65144916	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs115516870	chr13:65144939-65144940	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs555055352	chr13:65144980-65144981	Enhancers	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	20606397	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:65143800-65144200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr13:65144600-65145000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr13:65144600-65145000	Enhancers	Placenta Amnion	Placenta Amnion

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links