Variant report

Variant	nsv976332
Chromosome Location	chr14:39477729-39478988
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:51 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17108735	chr14:39477750-39477751	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs61023927	chr14:39477769-39477770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs533973850	chr14:39477771-39477772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs546727784	chr14:39477773-39477774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs566621419	chr14:39477786-39477787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs144810435	chr14:39477788-39477789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs111780203	chr14:39477797-39477798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs569197013	chr14:39477834-39477835	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs538175145	chr14:39477903-39477904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs552292032	chr14:39477957-39477958	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs377050515	chr14:39477995-39477996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs56869057	chr14:39477996-39477997	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs145213308	chr14:39478043-39478044	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs540822423	chr14:39478044-39478045	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs373072810	chr14:39478052-39478053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs553958690	chr14:39478089-39478090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs60368329	chr14:39478092-39478093	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs10141471	chr14:39478110-39478111	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs542704684	chr14:39478136-39478137	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs548829795	chr14:39478181-39478182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs562360850	chr14:39478191-39478192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs181493823	chr14:39478236-39478237	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs545009438	chr14:39478242-39478243	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs1884386	chr14:39478287-39478288	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs34089035	chr14:39478332-39478333	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs926970	chr14:39478393-39478394	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs547191979	chr14:39478421-39478422	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs535161616	chr14:39478422-39478423	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs149472578	chr14:39478459-39478460	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs537784839	chr14:39478483-39478484	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs201895082	chr14:39478489-39478490	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs367685129	chr14:39478511-39478512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs3896147	chr14:39478523-39478524	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs538225149	chr14:39478558-39478559	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs148232117	chr14:39478629-39478630	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs375475236	chr14:39478641-39478642	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs571907251	chr14:39478646-39478647	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs534447861	chr14:39478689-39478690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs111890640	chr14:39478705-39478706	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs574250656	chr14:39478725-39478726	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs542765970	chr14:39478753-39478754	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs556208001	chr14:39478781-39478782	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs143186084	chr14:39478817-39478818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs189321705	chr14:39478828-39478829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs564678195	chr14:39478831-39478832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs372930399	chr14:39478844-39478845	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs201010522	chr14:39478846-39478847	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs202008498	chr14:39478853-39478854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs200332803	chr14:39478855-39478856	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs397825886	chr14:39478864-39478865	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21044232	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Colorectal cancer	16774939	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	17899364	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Burkitt''s lymphoma	19759907	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
Prostate cancer	21298110	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21858162	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Thyroid cancer	19470727	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	21364760	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39462200-39480400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr14:39463600-39495200	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr14:39464200-39483000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr14:39464800-39492600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr14:39465600-39498200	Weak transcription	NH-A	brain
6	chr14:39466000-39481000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr14:39466000-39483000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr14:39469200-39497400	Weak transcription	HSMM	muscle
9	chr14:39473400-39498800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr14:39473800-39485400	Weak transcription	HSMMtube	muscle
11	chr14:39474000-39482800	Weak transcription	Right Atrium	heart
12	chr14:39474800-39477800	Weak transcription	Lung	lung
13	chr14:39474800-39482600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr14:39475000-39482600	Weak transcription	Right Ventricle	heart
15	chr14:39475000-39485600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr14:39476400-39482600	Weak transcription	Fetal Heart	heart
17	chr14:39476400-39483000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr14:39477400-39478000	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr14:39477800-39478000	Enhancers	Lung	lung
20	chr14:39477800-39479000	Enhancers	HepG2	liver
21	chr14:39478200-39479200	Enhancers	Liver	Liver
22	chr14:39478600-39478800	Enhancers	Placenta Amnion	Placenta Amnion

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