Variant report

Variant	nsv976839
Chromosome Location	chr14:84309923-84314033
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:84309371..84311362-chr14:84312416..84313933,2	MCF-7	breast:
2	chr14:84305420..84308089-chr14:84313303..84315570,2	MCF-7	breast:
3	chr14:84309371..84311362-chr14:84312416..84313933,2	MCF-7	breast:

Extended variants
information (count: 168 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:168 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11847215	chr14:84309924-84309925	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs368148790	chr14:84309935-84309936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs191490339	chr14:84309955-84309956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs537930990	chr14:84309989-84309990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs556326806	chr14:84309990-84309991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs181231308	chr14:84310035-84310036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs545160560	chr14:84310056-84310057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs186214496	chr14:84310090-84310091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs572265088	chr14:84310098-84310099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs1397780	chr14:84310123-84310124	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs566757078	chr14:84310155-84310156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs375925133	chr14:84310226-84310227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs368952756	chr14:84310234-84310235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs571268514	chr14:84310246-84310247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs529291041	chr14:84310253-84310254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs544286823	chr14:84310276-84310277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs115904229	chr14:84310277-84310278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs376274161	chr14:84310294-84310295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs551907985	chr14:84310308-84310309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs190612689	chr14:84310314-84310315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs527983095	chr14:84310339-84310340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs549737467	chr14:84310361-84310362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs540100590	chr14:84310405-84310406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs567253567	chr14:84310497-84310498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs183532574	chr14:84310501-84310502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs377152368	chr14:84310512-84310513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs187924347	chr14:84310553-84310554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs202161181	chr14:84310583-84310584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs148535600	chr14:84310584-84310585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs538365999	chr14:84310601-84310602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs534157984	chr14:84310602-84310603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs553886642	chr14:84310645-84310646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs572195450	chr14:84310740-84310741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs542506081	chr14:84310789-84310790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs1698269	chr14:84310795-84310796	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs191792249	chr14:84310802-84310803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs544164144	chr14:84310860-84310861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs112885235	chr14:84310875-84310876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs562746315	chr14:84310891-84310892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs533416868	chr14:84310915-84310916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs77954728	chr14:84310972-84310973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs560726805	chr14:84310983-84310984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs556916144	chr14:84310990-84310991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs571100196	chr14:84311036-84311037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs527920776	chr14:84311051-84311052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs538080405	chr14:84311063-84311064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs146551332	chr14:84311069-84311070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs532059519	chr14:84311090-84311091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs549757958	chr14:84311143-84311144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs77317023	chr14:84311150-84311151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
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
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
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Neuroblastoma	18923191	CNVD
Barrett''s syndrome	19417022	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16608533	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Breast cancer	17603634	CNVD
Glioblastoma	21080181	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cancer	20164920	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:84309400-84313800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr14:84309600-84315200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr14:84313200-84314200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr14:84313800-84314200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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