Variant report

Variant	nsv438250
Chromosome Location	chr13:39868773-39870592
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 86 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:86 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9315671	chr13:39868773-39868774	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs143885777	chr13:39868776-39868777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs569972101	chr13:39868786-39868787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs535808544	chr13:39868791-39868792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs139741847	chr13:39868813-39868814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs376039801	chr13:39868850-39868851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs566211229	chr13:39868879-39868880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs73463766	chr13:39868895-39868896	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs529666852	chr13:39868922-39868923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs554018141	chr13:39868937-39868938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs577063136	chr13:39868971-39868972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs546137512	chr13:39868972-39868973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs113277854	chr13:39868983-39868984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs576240192	chr13:39869016-39869017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs541839498	chr13:39869027-39869028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs561526874	chr13:39869067-39869068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs35748918	chr13:39869080-39869081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs572149659	chr13:39869125-39869126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs540686717	chr13:39869144-39869145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs115138996	chr13:39869184-39869185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs533322779	chr13:39869190-39869191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs550078321	chr13:39869200-39869201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs143066526	chr13:39869205-39869206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs117312174	chr13:39869215-39869216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs371381101	chr13:39869240-39869241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs189507658	chr13:39869241-39869242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs35719632	chr13:39869246-39869247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs9603522	chr13:39869256-39869257	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs376109304	chr13:39869262-39869263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs74044016	chr13:39869282-39869283	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs180994197	chr13:39869298-39869299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs73173441	chr13:39869303-39869304	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs571033029	chr13:39869313-39869314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs74435251	chr13:39869318-39869319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs142424835	chr13:39869382-39869383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs200418732	chr13:39869457-39869458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs535378205	chr13:39869492-39869493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs114734531	chr13:39869526-39869527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs571663357	chr13:39869537-39869538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs372473689	chr13:39869600-39869601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs565578469	chr13:39869639-39869640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs540750161	chr13:39869640-39869641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs563804968	chr13:39869669-39869670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs117100222	chr13:39869670-39869671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs200160066	chr13:39869684-39869685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs117300465	chr13:39869704-39869705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs77963968	chr13:39869737-39869738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs139321000	chr13:39869762-39869763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs117017688	chr13:39869767-39869768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs149975931	chr13:39869786-39869787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
Cancer	20164920	CNVD
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
Lung cancer	18438408	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
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	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	17899364	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Colorectal cancer	16774939	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Trisomy	24170809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Alveolar rhabdomyosarcoma	16790082	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Monoclonal gammopathy of undetermined significance	19135901	CNVD
Prostate cancer	19242612	CNVD
Prostate cancer	17245344	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Developmental delay	21147756	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Melanoma	18172304	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	17217626	CNVD
Retinoblastoma	21504564	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Chronic lymphocytic leukemia	17805327	CNVD
Mental retardation	17502991	CNVD
Retinoblastoma	17502991	CNVD
Bipolar disorder	18458673	CNVD
Liposarcoma	21253554	CNVD
T-cell lymphomas	19863542	CNVD
Cervical cancer	21062161	CNVD
microdeletion syndrome	19284877	CNVD
Ovarian cancer	22355333	CNVD
Ewing''s sarcoma	18628472	CNVD
Leukemia	18628472	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:39868600-39871000	Weak transcription	HSMMtube	muscle
2	chr13:39868800-39881000	Weak transcription	Aorta	Aorta

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links