Variant report

Variant	nsv512323
Chromosome Location	chr13:65341495-65344616
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 97 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:97 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190578254	chr13:65341503-65341504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs561512995	chr13:65341528-65341529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs12870496	chr13:65341591-65341592	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs550317819	chr13:65341592-65341593	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs56976038	chr13:65341624-65341625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs139006505	chr13:65341639-65341640	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs570212809	chr13:65341663-65341664	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs562189533	chr13:65341742-65341743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs143744104	chr13:65341746-65341747	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs529491633	chr13:65341790-65341791	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs147208056	chr13:65341807-65341808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs569559588	chr13:65341863-65341864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs180948399	chr13:65341913-65341914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs140507691	chr13:65341931-65341932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs555667196	chr13:65341943-65341944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs149296426	chr13:65341951-65341952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs535020716	chr13:65341957-65341958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs11839517	chr13:65342008-65342009	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs200488255	chr13:65342012-65342013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs149546880	chr13:65342037-65342038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs578138525	chr13:65342048-65342049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs143122844	chr13:65342071-65342072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs543981449	chr13:65342093-65342094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs113551902	chr13:65342096-65342097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs563851893	chr13:65342106-65342107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs113947362	chr13:65342134-65342135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs112637787	chr13:65342139-65342140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs566372907	chr13:65342161-65342162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs540128517	chr13:65342170-65342171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs542920568	chr13:65342171-65342172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs9598838	chr13:65342217-65342218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs144514658	chr13:65342225-65342226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs148424425	chr13:65342238-65342239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs546995037	chr13:65342256-65342257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs563776784	chr13:65342300-65342301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs371177506	chr13:65342320-65342321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs142526237	chr13:65342356-65342357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs146430530	chr13:65342418-65342419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs569733969	chr13:65342434-65342435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs11617114	chr13:65342461-65342462	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs548977994	chr13:65342474-65342475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs139795872	chr13:65342494-65342495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs534652052	chr13:65342512-65342513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs558182434	chr13:65342547-65342548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs571696726	chr13:65342653-65342654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs143912617	chr13:65342733-65342734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs146864446	chr13:65342752-65342753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs185073812	chr13:65342824-65342825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs543211549	chr13:65342909-65342910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs190272986	chr13:65342910-65342911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

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

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:65340000-65341800	Enhancers	HUVEC	blood vessel
2	chr13:65340800-65341600	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr13:65340800-65341800	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr13:65341000-65341600	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr13:65341200-65341600	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr13:65341200-65341600	Enhancers	H1 Cell Line	embryonic stem cell
7	chr13:65341200-65341600	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr13:65341800-65343400	Weak transcription	HUVEC	blood vessel
9	chr13:65343400-65344200	Enhancers	HUVEC	blood vessel

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