Variant report

Variant	nsv977614
Chromosome Location	chr14:72696106-72702781
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:72694736..72697580-chr14:72698002..72700652,3	MCF-7	breast:
2	chr14:72576115..72579038-chr14:72700345..72702644,2	MCF-7	breast:
3	chr14:72694736..72697580-chr14:72698002..72700652,3	MCF-7	breast:

Extended variants
information (count: 333 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:333 , 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	rs531375762	chr14:72696116-72696117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs549953054	chr14:72696152-72696153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs561791398	chr14:72696153-72696154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs141021282	chr14:72696166-72696167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs192661227	chr14:72696172-72696173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs144769526	chr14:72696186-72696187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs76092289	chr14:72696192-72696193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs74329933	chr14:72696208-72696209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs185630682	chr14:72696226-72696227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs35248354	chr14:72696238-72696239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs551461443	chr14:72696240-72696241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs189288451	chr14:72696253-72696254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs538007621	chr14:72696269-72696270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs371728887	chr14:72696311-72696312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs375486408	chr14:72696315-72696316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs207474954	chr14:72696353-72696354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs10131441	chr14:72696361-72696362	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs536175287	chr14:72696370-72696371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs180995449	chr14:72696377-72696378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs8006974	chr14:72696447-72696448	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs185825112	chr14:72696450-72696451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs545818080	chr14:72696451-72696452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs557785914	chr14:72696471-72696472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs112209860	chr14:72696483-72696484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs188593385	chr14:72696490-72696491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs8007128	chr14:72696506-72696507	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs111523600	chr14:72696521-72696522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs7144256	chr14:72696531-72696532	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs847310	chr14:72696609-72696610	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs2158988	chr14:72696620-72696621	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs2158987	chr14:72696625-72696626	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs77704862	chr14:72696708-72696709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs367659543	chr14:72696709-72696710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs371432295	chr14:72696738-72696739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs57597479	chr14:72696777-72696778	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs568672178	chr14:72696784-72696785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs535688932	chr14:72696794-72696795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs181045178	chr14:72696803-72696804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs566037315	chr14:72696820-72696821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs574148312	chr14:72696852-72696853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs535141319	chr14:72696856-72696857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs847309	chr14:72696877-72696878	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs186038488	chr14:72696911-72696912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs143583637	chr14:72696940-72696941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs555254100	chr14:72696969-72696970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs573744346	chr14:72697030-72697031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs2238226	chr14:72697049-72697050	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs80194888	chr14:72697096-72697097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs34855899	chr14:72697139-72697140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs74452280	chr14:72697160-72697161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	22032731	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Ovarian cancer	21720365	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Barrett''s syndrome	19417022	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Neuroblastoma	20406844	CNVD
Hepatocellular carcinoma	16750200	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Alzheimer''s disease	22166940	CNVD
Cancer	20164919	CNVD
head and neck squamous cell carcinoma	24351288	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:72687800-72700200	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr14:72687800-72705800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr14:72699400-72699800	Enhancers	Right Ventricle	heart
4	chr14:72699600-72700600	Enhancers	Left Ventricle	heart
5	chr14:72699800-72700600	Enhancers	Right Atrium	heart
6	chr14:72699800-72700800	Enhancers	Fetal Heart	heart
7	chr14:72699800-72719600	Weak transcription	Right Ventricle	heart
8	chr14:72700200-72700600	Strong transcription	Cortex derived primary cultured neurospheres	brain
9	chr14:72700600-72709800	Weak transcription	Cortex derived primary cultured neurospheres	brain

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