Variant report

Variant	nsv437164
Chromosome Location	chr13:39867227-39872237
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 243 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:243 , 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	rs7986707	chr13:39867227-39867228	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs111279856	chr13:39867231-39867232	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs370945860	chr13:39867254-39867255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs80121568	chr13:39867274-39867275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs191071330	chr13:39867310-39867311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs12184886	chr13:39867313-39867314	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs552256344	chr13:39867329-39867330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs75105496	chr13:39867410-39867411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs116134411	chr13:39867432-39867433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs200801412	chr13:39867456-39867457	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs555121701	chr13:39867543-39867544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs575075914	chr13:39867558-39867559	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs559090548	chr13:39867575-39867576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs143695464	chr13:39867639-39867640	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs183337642	chr13:39867662-39867663	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs139954331	chr13:39867696-39867697	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs576777780	chr13:39867698-39867699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs145784544	chr13:39867718-39867719	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs188116777	chr13:39867724-39867725	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs74603962	chr13:39867731-39867732	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs556179191	chr13:39867761-39867762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs546476786	chr13:39867768-39867769	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs112547208	chr13:39867774-39867775	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs117399148	chr13:39867779-39867780	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs3032896	chr13:39867815-39867816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs386378884	chr13:39867816-39867817	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs68183203	chr13:39867826-39867827	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs397742999	chr13:39867827-39867828	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs118067091	chr13:39867829-39867830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs370363367	chr13:39867839-39867840	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs546834299	chr13:39867845-39867846	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs560193020	chr13:39867861-39867862	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs192074755	chr13:39867866-39867867	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs552186857	chr13:39867906-39867907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs536742893	chr13:39867910-39867911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs537941941	chr13:39867911-39867912	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs117703859	chr13:39867921-39867922	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs568597029	chr13:39867926-39867927	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs534227237	chr13:39867928-39867929	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs2181757	chr13:39867930-39867931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs554415477	chr13:39867941-39867942	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs148926110	chr13:39867948-39867949	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs539485121	chr13:39867986-39867987	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs556119737	chr13:39868007-39868008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs374729898	chr13:39868008-39868009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs553232224	chr13:39868020-39868021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs143674286	chr13:39868034-39868035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs529796360	chr13:39868043-39868044	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs542302246	chr13:39868051-39868052	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs549614613	chr13:39868058-39868059	Enhancers	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:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:39867200-39868600	Enhancers	HSMMtube	muscle
2	chr13:39868600-39871000	Weak transcription	HSMMtube	muscle
3	chr13:39868800-39881000	Weak transcription	Aorta	Aorta
4	chr13:39870600-39871000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
5	chr13:39870600-39871600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr13:39871000-39872200	Enhancers	HSMMtube	muscle
7	chr13:39871200-39872600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr13:39871600-39872400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr13:39872000-39872400	Enhancers	Placenta Amnion	Placenta Amnion

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links