Variant report

Variant	nsv523306
Chromosome Location	chr13:86618098-86628241
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 125 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:125 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372757729	chr13:86624864-86624865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs536667904	chr13:86624899-86624900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs543543396	chr13:86624923-86624924	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs141770473	chr13:86625016-86625017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs573908014	chr13:86625040-86625041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs75799654	chr13:86625044-86625045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs147085065	chr13:86625084-86625085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs74102174	chr13:86625143-86625144	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs545230069	chr13:86625165-86625166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs372670059	chr13:86625200-86625201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs143912851	chr13:86625210-86625211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs543271111	chr13:86625278-86625279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs147159650	chr13:86625280-86625281	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs185232460	chr13:86625295-86625296	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs568057510	chr13:86625328-86625329	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs533743188	chr13:86625380-86625381	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs75665275	chr13:86625416-86625417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs35377825	chr13:86625433-86625434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs576848425	chr13:86625437-86625438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs539332498	chr13:86625449-86625450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs74814729	chr13:86625479-86625480	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs544261291	chr13:86625480-86625481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs562261566	chr13:86625489-86625490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs207474156	chr13:86625506-86625507	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs539730022	chr13:86625508-86625509	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs114563800	chr13:86625514-86625515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs569862695	chr13:86625588-86625589	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs188801179	chr13:86625589-86625590	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs555541527	chr13:86625636-86625637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs192640211	chr13:86625652-86625653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs12873140	chr13:86625678-86625679	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs541040184	chr13:86625683-86625684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs185079673	chr13:86625696-86625697	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs577955881	chr13:86625713-86625714	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs545291656	chr13:86625745-86625746	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs138727426	chr13:86625758-86625759	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs111261304	chr13:86625791-86625792	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs149342726	chr13:86625825-86625826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs144625390	chr13:86625878-86625879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs561600166	chr13:86625880-86625881	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs371869037	chr13:86625930-86625931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs547449575	chr13:86626029-86626030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs113608170	chr13:86626037-86626038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs533311931	chr13:86626058-86626059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs141143694	chr13:86626062-86626063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs551655340	chr13:86626068-86626069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs569844620	chr13:86626111-86626112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs77480080	chr13:86626125-86626126	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs549480577	chr13:86626147-86626148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs567685060	chr13:86626191-86626192	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
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
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
Prostate cancer	18632612	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Metanephric adenoma	20802469	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Gastric cancer	17908304	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
abnormal development	18461090	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	21965145	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Cancer	21220470	CNVD
Cancer	21183584	CNVD
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Cancer	17160897	CNVD
Mantle cell lymphoma	19690137	CNVD
Rhabdomyosarcoma	17210683	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:86624800-86625600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr13:86625200-86625600	Enhancers	A549	lung
3	chr13:86625200-86625800	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr13:86625400-86626200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr13:86625600-86626200	Enhancers	Hela-S3	cervix
6	chr13:86626200-86627800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr13:86627200-86627600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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