Variant report

Variant	nsv1025541
Chromosome Location	chr5:11966738-12007507
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:11988967..11990502-chr5:11996278..11998548,2	MCF-7	breast:
2	chr5:11988967..11990502-chr5:11996278..11998548,2	MCF-7	breast:
3	chr5:11957297..11959907-chr5:11964344..11966924,2	K562	blood:
4	chr5:11975273..11976948-chr5:11978049..11980224,2	MCF-7	breast:
5	chr5:11975273..11976948-chr5:11978049..11980224,2	MCF-7	breast:
6	chr5:11971983..11973698-chr5:11974006..11976968,2	MCF-7	breast:
7	chr5:11971983..11973698-chr5:11974006..11976968,2	MCF-7	breast:

Extended variants
information (count: 439 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:439 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556315175	chr5:11978005-11978006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs34167552	chr5:11978013-11978014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs80295559	chr5:11978026-11978027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs542013096	chr5:11978033-11978034	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs111808437	chr5:11978095-11978096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs370071240	chr5:11978141-11978142	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs139619348	chr5:11978145-11978146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs185108813	chr5:11978180-11978181	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs560346232	chr5:11978296-11978297	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs144247742	chr5:11978359-11978360	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs60069208	chr5:11978369-11978370	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs375029374	chr5:11978382-11978383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs531866602	chr5:11978423-11978424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs528444107	chr5:11978492-11978493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs562303405	chr5:11978506-11978507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs529419437	chr5:11978517-11978518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs74513891	chr5:11978530-11978531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs188149295	chr5:11978536-11978537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs73746165	chr5:11978548-11978549	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs375340900	chr5:11978597-11978598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs552187190	chr5:11978608-11978609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs78596926	chr5:11978609-11978610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs116449447	chr5:11978673-11978674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs538140927	chr5:11978741-11978742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs145248596	chr5:11978749-11978750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs182017862	chr5:11978751-11978752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs80027342	chr5:11978794-11978795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs553568998	chr5:11978833-11978834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs369250927	chr5:11978869-11978870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs572183395	chr5:11978945-11978946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs550455406	chr5:11978997-11978998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs373398168	chr5:11979028-11979029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs565074674	chr5:11979039-11979040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs576404795	chr5:11979098-11979099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs58406156	chr5:11979109-11979110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs11284559	chr5:11979159-11979160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs562204300	chr5:11979216-11979217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs143557582	chr5:11979231-11979232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs539686752	chr5:11979285-11979286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs541244400	chr5:11979326-11979327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs186207026	chr5:11979338-11979339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs532302709	chr5:11979375-11979376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs527371319	chr5:11979409-11979410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs558082347	chr5:11979412-11979413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs573204020	chr5:11979419-11979420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs115831377	chr5:11979433-11979434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs570563247	chr5:11979448-11979449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs192005522	chr5:11979453-11979454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs549762911	chr5:11979511-11979512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs116231409	chr5:11979517-11979518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:106)

Disease	PMID	Source
renal disease	17924346	CNVD
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
Melanoma	22183965	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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:11978000-11978400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:11978400-11989400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr5:11983400-11984000	Enhancers	Fetal Brain Male	brain
4	chr5:11984000-11985000	Weak transcription	Fetal Brain Male	brain
5	chr5:11984400-11984600	Enhancers	Ovary	ovary
6	chr5:11985200-11985400	Enhancers	Fetal Brain Male	brain
7	chr5:11992000-11992400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr5:11994400-11994800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr5:11997800-11998000	Enhancers	Liver	Liver
10	chr5:12003800-12004200	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr5:12003800-12004200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr5:12003800-12004200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr5:12003800-12004400	Enhancers	H9 Cell Line	embryonic stem cell
14	chr5:12003800-12004400	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr5:12003800-12004400	Enhancers	HUES6 Cell Line	embryonic stem cell

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