Variant report

Variant	nsv880779
Chromosome Location	chr5:12465904-12525748
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:12474403..12476609-chr5:12481266..12483137,2	MCF-7	breast:
2	chr5:12474403..12476609-chr5:12481266..12483137,2	MCF-7	breast:
3	chr5:12474522..12476679-chr5:12488826..12490778,2	MCF-7	breast:
4	chr5:12474522..12476679-chr5:12488826..12490778,2	MCF-7	breast:

Extended variants
information (count: 991 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:991 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs56412428	chr5:12465904-12465905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs527729833	chr5:12465936-12465937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs546051725	chr5:12466004-12466005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs138380264	chr5:12466043-12466044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs185904165	chr5:12466067-12466068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs191812482	chr5:12466073-12466074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs143971610	chr5:12466080-12466081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs561466813	chr5:12466100-12466101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs183224399	chr5:12466122-12466123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs576098988	chr5:12466123-12466124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs531383030	chr5:12466125-12466126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs186430428	chr5:12466131-12466132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs73744664	chr5:12466143-12466144	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs529553979	chr5:12466153-12466154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs541731399	chr5:12466156-12466157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs41081	chr5:12466185-12466186	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs72728930	chr5:12466221-12466222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs191036533	chr5:12466249-12466250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs538499909	chr5:12466270-12466271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs531031496	chr5:12466280-12466281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs182363653	chr5:12466335-12466336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs547334312	chr5:12466371-12466372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs114253449	chr5:12466402-12466403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs553620033	chr5:12466430-12466431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs143062335	chr5:12466457-12466458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs186600051	chr5:12466463-12466464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs115045613	chr5:12466489-12466490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs143415239	chr5:12466493-12466494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs42282	chr5:12466561-12466562	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs376393938	chr5:12466568-12466569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs192540695	chr5:12466593-12466594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs576062020	chr5:12466620-12466621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs183336851	chr5:12466718-12466719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs369950953	chr5:12466719-12466720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs113623787	chr5:12466753-12466754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs188561811	chr5:12466754-12466755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs578204367	chr5:12466783-12466784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs545424468	chr5:12466793-12466794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs11133716	chr5:12466798-12466799	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs376845498	chr5:12466847-12466848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs148372740	chr5:12466877-12466878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs141429829	chr5:12466903-12466904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs561066306	chr5:12466945-12466946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs75678581	chr5:12466947-12466948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs547196167	chr5:12466952-12466953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs370605176	chr5:12466962-12466963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs32249	chr5:12466975-12466976	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs539720479	chr5:12466989-12466990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs80354386	chr5:12466995-12466996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs150817865	chr5:12466996-12466997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:106)

Disease	PMID	Source
Cervical squamous cell carcinoma	21590768	CNVD
abnormal development	18461090	CNVD
Lung cancer	19547694	CNVD
Cri-du chat syndrome	22283845	CNVD
Disorders of sex development	21048976	CNVD
Non-small cell lung cancer	20864512	CNVD
Cancer	21183584	CNVD
Honadal dysgenesis	21048976	CNVD
Cancer	16751803	CNVD
Breast cancer	17133270	CNVD
Hepatocellular carcinoma	22174799	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Salivary gland tumor	18059337	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Kartagener syndrome	16639409	CNVD
Medulloblastoma	21979893	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Multiple myeloma	17550852	CNVD
prenatal diagnosis	22389664	CNVD
Bladder cancer	21909424	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Breast cancer	21858162	CNVD
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	22495311	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Intellectual disability	22102821	CNVD
Myelofibrosis	22110671	CNVD
Cri-du chat syndrome	16773131	CNVD
Cryptorchidism	21048976	CNVD
Glioblastoma multiforme	22286061	CNVD
Cervical cancer	16585170	CNVD
Mental retardation	16773131	CNVD
Non-small cell lung cancer	21829676	CNVD
Cri-du chat syndrome	22470819	CNVD
sporadic birth defects	19047251	CNVD
Non-small cell lung cancer	17643093	CNVD
Renal cell carcinoma	18765545	CNVD
Schizophrenia	18940311	CNVD
Central neurocytomas	17123091	CNVD
Mental retardation	17847001	CNVD
Neurocytoma	17123091	CNVD
Mental retardation	19546859	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Williams Syndrome	20824207	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Glioma	20126413	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:12462000-12469200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr5:12488200-12488400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr5:12488200-12488600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:12501600-12505600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr5:12503400-12504600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
6	chr5:12504000-12505000	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr5:12504200-12505000	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr5:12504200-12507000	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr5:12504400-12506200	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr5:12504600-12505000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr5:12504600-12507400	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr5:12505000-12505200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
13	chr5:12505000-12505200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
14	chr5:12505000-12506000	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr5:12505200-12505400	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr5:12505200-12505400	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr5:12505400-12505600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
18	chr5:12505400-12505800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
19	chr5:12505600-12505800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
20	chr5:12505600-12506400	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr5:12505800-12506000	Enhancers	H9 Cell Line	embryonic stem cell
22	chr5:12505800-12506400	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr5:12507200-12507400	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr5:12507600-12522400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr5:12509800-12511800	Weak transcription	H1 Cell Line	embryonic stem cell

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