Variant report

Variant	nsv983513
Chromosome Location	chr13:39521370-39526141
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:39521347..39523381-chr13:39525181..39526841,2	MCF-7	breast:
2	chr13:39521347..39523381-chr13:39525181..39526841,2	MCF-7	breast:
3	chr13:39520213..39521754-chr13:39613104..39615261,2	MCF-7	breast:

Extended variants
information (count: 236 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:236 , 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	rs547417198	chr13:39521390-39521391	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs148859044	chr13:39521445-39521446	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs570481607	chr13:39521459-39521460	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs185732775	chr13:39521470-39521471	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs549885924	chr13:39521477-39521478	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs569806956	chr13:39521478-39521479	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs535667702	chr13:39521480-39521481	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs564083644	chr13:39521497-39521498	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs188191005	chr13:39521527-39521528	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs143493360	chr13:39521591-39521592	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs535349807	chr13:39521658-39521659	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs567318483	chr13:39521718-39521719	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs116423215	chr13:39521719-39521720	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs73451812	chr13:39521724-39521725	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs113060174	chr13:39521728-39521729	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs552824586	chr13:39521743-39521744	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs557034089	chr13:39521759-39521760	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs74048300	chr13:39521791-39521792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs541616148	chr13:39521799-39521800	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs561933257	chr13:39521816-39521817	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs527561433	chr13:39521820-39521821	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs377405569	chr13:39521851-39521852	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs73451815	chr13:39521856-39521857	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs538827867	chr13:39521862-39521863	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs141527144	chr13:39521905-39521906	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs549849082	chr13:39521989-39521990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs569720978	chr13:39522005-39522006	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs73451817	chr13:39522047-39522048	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs201269298	chr13:39522094-39522095	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs199579051	chr13:39522095-39522096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs35135606	chr13:39522096-39522097	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs368321894	chr13:39522097-39522098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs74050304	chr13:39522116-39522117	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs73451821	chr13:39522134-39522135	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs138491053	chr13:39522161-39522162	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs558017749	chr13:39522209-39522210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs537118834	chr13:39522211-39522212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs180986398	chr13:39522227-39522228	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs73451824	chr13:39522235-39522236	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs76593042	chr13:39522259-39522260	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs74050307	chr13:39522267-39522268	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs536776672	chr13:39522276-39522277	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs544836817	chr13:39522277-39522278	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs74050308	chr13:39522280-39522281	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs9576653	chr13:39522287-39522288	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs541269861	chr13:39522298-39522299	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs377518862	chr13:39522318-39522319	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs143038764	chr13:39522349-39522350	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs41467048	chr13:39522356-39522357	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs563294578	chr13:39522390-39522391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

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

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:39514800-39524200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr13:39520200-39541600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr13:39521200-39521600	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr13:39521200-39521600	Enhancers	Colon Smooth Muscle	Colon
5	chr13:39521200-39523400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr13:39521400-39521800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr13:39521800-39526200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr13:39525000-39525600	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr13:39525200-39525400	Enhancers	Pancreas	Pancrea
10	chr13:39525400-39526400	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr13:39525400-39526800	Weak transcription	Pancreas	Pancrea
12	chr13:39525600-39525800	Enhancers	HUVEC	blood vessel
13	chr13:39525800-39526400	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr13:39525800-39526400	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr13:39525800-39526400	Active TSS	Rectal Mucosa Donor 29	rectum
16	chr13:39525800-39526400	Flanking Active TSS	HUVEC	blood vessel
17	chr13:39525800-39526600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr13:39526000-39526200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr13:39526000-39526200	Active TSS	Adipose Nuclei	Adipose
20	chr13:39526000-39526200	Active TSS	Duodenum Mucosa	Duodenum
21	chr13:39526000-39526400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr13:39526000-39526400	Active TSS	Right Atrium	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links