Variant report

Variant	nsv983935
Chromosome Location	chr14:44329002-44336338
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	chr11:64084683..64085194-chr14:44328405..44329034,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000173113	chromatin interactions

Extended variants
information (count: 306 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:306 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147482446	chr14:44329008-44329009	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs549152932	chr14:44329017-44329018	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs571391209	chr14:44329025-44329026	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs183514448	chr14:44329044-44329045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs7152471	chr14:44329059-44329060	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs78422979	chr14:44329080-44329081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs536698386	chr14:44329106-44329107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs536597555	chr14:44329140-44329141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs555777226	chr14:44329144-44329145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs188295336	chr14:44329148-44329149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs541482839	chr14:44329233-44329234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs553215821	chr14:44329270-44329271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs115559455	chr14:44329305-44329306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs573645601	chr14:44329312-44329313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs545207972	chr14:44329395-44329396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs563584879	chr14:44329396-44329397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs531086333	chr14:44329429-44329430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs542945974	chr14:44329437-44329438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs560903168	chr14:44329465-44329466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs140008563	chr14:44329471-44329472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs145341019	chr14:44329482-44329483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs577757048	chr14:44329486-44329487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs556658005	chr14:44329527-44329528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs571263466	chr14:44329528-44329529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs192475249	chr14:44329536-44329537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs577168948	chr14:44329554-44329555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs575729553	chr14:44329576-44329577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs149987193	chr14:44329577-44329578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs112508046	chr14:44329609-44329610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs201278248	chr14:44329610-44329611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs142378049	chr14:44329633-44329634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs36004948	chr14:44329640-44329641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs71108625	chr14:44329643-44329644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs143988633	chr14:44329644-44329645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs147670982	chr14:44329655-44329656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs569100743	chr14:44329678-44329679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs539404184	chr14:44329749-44329750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs545933630	chr14:44329776-44329777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs184839504	chr14:44329792-44329793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs140371604	chr14:44329846-44329847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs548205907	chr14:44329862-44329863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs189352135	chr14:44329921-44329922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs534713721	chr14:44329962-44329963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs371329193	chr14:44329976-44329977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs149957537	chr14:44330075-44330076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs577710899	chr14:44330134-44330135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs538774653	chr14:44330149-44330150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs557113781	chr14:44330155-44330156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs575445429	chr14:44330186-44330187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs181604311	chr14:44330201-44330202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
Chronic myeloid leukemia	20724749	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	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
Metanephric adenoma	20802469	CNVD
Breast cancer	21858162	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Renal cell carcinoma	18194544	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myelofibrosis	22110671	CNVD
Melanoma	17363583	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:44326400-44338600	Weak transcription	ES-I3 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links