Variant report

Variant	nsv818976
Chromosome Location	chr13:69762895-69766390
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:69761351..69764047-chr13:69765452..69767697,2	K562	blood:
2	chr13:69761351..69764047-chr13:69765452..69767697,2	K562	blood:

Extended variants
information (count: 140 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:140 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10507760	chr13:69762895-69762896	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs551629514	chr13:69762910-69762911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs17601887	chr13:69762943-69762944	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs530768147	chr13:69762968-69762969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs550952713	chr13:69762969-69762970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs376615607	chr13:69762981-69762982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs138131263	chr13:69763054-69763055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs10507761	chr13:69763061-69763062	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
9	rs536960557	chr13:69763088-69763089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs553583824	chr13:69763107-69763108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs567119420	chr13:69763108-69763109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs548306163	chr13:69763120-69763121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs367805327	chr13:69763133-69763134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs538720591	chr13:69763196-69763197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs8000906	chr13:69763228-69763229	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs575300792	chr13:69763270-69763271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs9564537	chr13:69763274-69763275	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs141765961	chr13:69763277-69763278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs574376279	chr13:69763305-69763306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs200010704	chr13:69763372-69763373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs540164146	chr13:69763385-69763386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs150588056	chr13:69763397-69763398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs201422158	chr13:69763402-69763403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs577004007	chr13:69763411-69763412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs11455340	chr13:69763420-69763421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs556038254	chr13:69763428-69763429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs545985500	chr13:69763531-69763532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs565184426	chr13:69763546-69763547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs527321833	chr13:69763549-69763550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs138165946	chr13:69763609-69763610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs550664028	chr13:69763619-69763620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs1336181	chr13:69763728-69763729	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs530416805	chr13:69763748-69763749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs185115590	chr13:69763752-69763753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs115018760	chr13:69763780-69763781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs9592627	chr13:69763786-69763787	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs17084801	chr13:69763806-69763807	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs568826583	chr13:69763813-69763814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs139155082	chr13:69763864-69763865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs11148802	chr13:69763887-69763888	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs554120702	chr13:69763888-69763889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs188700179	chr13:69763937-69763938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs111972264	chr13:69763944-69763945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs533826656	chr13:69763954-69763955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs10507762	chr13:69763970-69763971	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs77648464	chr13:69764012-69764013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs545649312	chr13:69764035-69764036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs562716746	chr13:69764042-69764043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs185211933	chr13:69764057-69764058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs149558216	chr13:69764059-69764060	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
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
Prostate cancer	16461572	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Myelofibrosis	22110671	CNVD
Esophageal cancer	21851588	CNVD
Bipolar disorder	19114987	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:69742600-69770200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr13:69762000-69766600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr13:69762800-69773800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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