Variant report

Variant	nsv9081
Chromosome Location	chr13:65316145-65322062
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 204 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:204 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs115243464	chr13:65316205-65316206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs562446278	chr13:65316233-65316234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs375654673	chr13:65316248-65316249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs553511359	chr13:65316257-65316258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs536952340	chr13:65316300-65316301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs181713722	chr13:65316322-65316323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs60362579	chr13:65316354-65316355	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs186018743	chr13:65316393-65316394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs201584987	chr13:65316412-65316413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs557408429	chr13:65316507-65316508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs35998647	chr13:65316510-65316511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs545666115	chr13:65316511-65316512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs577338683	chr13:65316532-65316533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs190539627	chr13:65316562-65316563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs182422185	chr13:65316580-65316581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs527276385	chr13:65316622-65316623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs186983072	chr13:65316623-65316624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs542905791	chr13:65316678-65316679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs373945051	chr13:65316697-65316698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs573176973	chr13:65316709-65316710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs547398150	chr13:65316710-65316711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs143923944	chr13:65316735-65316736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs367862188	chr13:65316796-65316797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs191105566	chr13:65316797-65316798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs551145974	chr13:65316816-65316817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs368408734	chr13:65316825-65316826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs561527479	chr13:65316863-65316864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs530268934	chr13:65316869-65316870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs547255747	chr13:65316898-65316899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs531670598	chr13:65316904-65316905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs567079435	chr13:65316947-65316948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs554023295	chr13:65316975-65316976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs7330428	chr13:65316999-65317000	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs552933741	chr13:65317009-65317010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs562117077	chr13:65317010-65317011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs35250422	chr13:65317034-65317035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs112003075	chr13:65317048-65317049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs7330267	chr13:65317049-65317050	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs536752728	chr13:65317103-65317104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs556686196	chr13:65317119-65317120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs148195410	chr13:65317163-65317164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs182090124	chr13:65317175-65317176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs553212509	chr13:65317177-65317178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs77778872	chr13:65317196-65317197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs141127815	chr13:65317223-65317224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs6562370	chr13:65317255-65317256	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs368858270	chr13:65317292-65317293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs78347000	chr13:65317315-65317316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs542786800	chr13:65317319-65317320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs7332309	chr13:65317347-65317348	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:65314800-65333000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr13:65318000-65318400	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr13:65318000-65318400	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr13:65318000-65318400	Enhancers	Fetal Brain Male	brain
5	chr13:65318200-65318400	Enhancers	H1 Cell Line	embryonic stem cell
6	chr13:65318200-65318400	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr13:65318400-65320200	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr13:65318400-65320200	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr13:65318400-65320800	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr13:65318400-65320800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr13:65318400-65321000	Weak transcription	Fetal Brain Male	brain
12	chr13:65320200-65321400	Enhancers	H1 Cell Line	embryonic stem cell
13	chr13:65320200-65322400	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr13:65320400-65321800	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr13:65320800-65321000	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr13:65320800-65321400	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr13:65320800-65321800	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr13:65320800-65322000	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr13:65321000-65321400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
20	chr13:65321000-65321600	Enhancers	Fetal Brain Male	brain
21	chr13:65321400-65321600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr13:65321400-65321800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr13:65321400-65322200	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr13:65321400-65322600	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr13:65321400-65323600	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr13:65321800-65322400	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr13:65321800-65323800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr13:65322000-65323600	Weak transcription	HUES64 Cell Line	embryonic stem cell

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