Variant report

Variant	nsv1031262
Chromosome Location	chr6:81372977-81399620
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	chr6:81383718..81384315-chr6:81452032..81452789,2	MCF-7	breast:

Extended variants
information (count: 578 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:578 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577657754	chr6:81373122-81373123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs151291636	chr6:81373131-81373132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs563095276	chr6:81373137-81373138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs183304608	chr6:81373148-81373149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs141881912	chr6:81373163-81373164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs576975465	chr6:81373196-81373197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs559242944	chr6:81373218-81373219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs62424497	chr6:81373223-81373224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs201189768	chr6:81373226-81373227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs548417924	chr6:81373227-81373228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs528401076	chr6:81373308-81373309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs112862372	chr6:81373326-81373327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs570800675	chr6:81373334-81373335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs533466233	chr6:81373356-81373357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs562817513	chr6:81373370-81373371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs185767045	chr6:81373447-81373448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs142377346	chr6:81373461-81373462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs536072317	chr6:81373481-81373482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs556069567	chr6:81373543-81373544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs566340917	chr6:81373544-81373545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs150187227	chr6:81373545-81373546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs530006384	chr6:81373560-81373561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs372398166	chr6:81373581-81373582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs557731332	chr6:81373663-81373664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs191209295	chr6:81373670-81373671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs543072625	chr6:81373726-81373727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs13206855	chr6:81373839-81373840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs559370327	chr6:81373843-81373844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs559870772	chr6:81373855-81373856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs528363353	chr6:81373869-81373870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs183200670	chr6:81373907-81373908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs542389661	chr6:81373908-81373909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs187883955	chr6:81373940-81373941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs559315135	chr6:81373943-81373944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs528375825	chr6:81373960-81373961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs13193041	chr6:81373966-81373967	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
37	rs559790440	chr6:81374048-81374049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs560506334	chr6:81374109-81374110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs546673354	chr6:81374117-81374118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs138487644	chr6:81374118-81374119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs71958100	chr6:81374119-81374120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs111594258	chr6:81374120-81374121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs386407697	chr6:81374121-81374122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs72564127	chr6:81374122-81374123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs33973921	chr6:81374123-81374124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs201394633	chr6:81374124-81374125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs369613032	chr6:81374139-81374140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs550755399	chr6:81374145-81374146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs3937697	chr6:81374150-81374151	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs16892113	chr6:81374182-81374183	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:105)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	22495311	CNVD
Gastric cancer	17908304	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Ependymoma	16718352	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Developmental delay	21147756	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Lung adenocarcinoma	21935476	CNVD
Myelofibrosis	22110671	CNVD
Salivary gland tumor	18059337	CNVD
Lung cancer	16773561	CNVD
Glioblastoma multiforme	22286061	CNVD
Urothelial cell carcinoma	18451213	CNVD
Prostate cancer	16461572	CNVD
Mental retardation	21045960	CNVD
Obesity	21045960	CNVD
learning difficulties	21045960	CNVD
Prostate cancer	17245344	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Cancer	20164920	CNVD
Burkitt''s lymphoma	20823134	CNVD
Ductal carcinoma	22052326	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Tetralogy of Fallot	22912587	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:81364600-81386800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr6:81375000-81376600	Enhancers	Pancreatic Islets	Pancreatic Islet
3	chr6:81376600-81380400	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr6:81377400-81377800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr6:81380400-81380800	Enhancers	Pancreatic Islets	Pancreatic Islet
6	chr6:81380800-81383000	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr6:81383000-81384200	Enhancers	Pancreatic Islets	Pancreatic Islet
8	chr6:81383200-81384000	Enhancers	HepG2	liver
9	chr6:81384000-81384400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr6:81384200-81384800	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr6:81384800-81385000	Enhancers	Pancreatic Islets	Pancreatic Islet
12	chr6:81386000-81387000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr6:81388400-81390400	Enhancers	Pancreatic Islets	Pancreatic Islet
14	chr6:81399200-81400000	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr6:81399200-81400200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr6:81399400-81399600	Enhancers	Dnd41	blood
17	chr6:81399400-81399800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr6:81399400-81400000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr6:81399400-81400000	Active TSS	Stomach Smooth Muscle	stomach
20	chr6:81399400-81400000	Active TSS	NHLF	lung
21	chr6:81399400-81400600	Enhancers	Osteobl	bone
22	chr6:81399400-81400800	Active TSS	NHDF-Ad	bronchial
23	chr6:81399600-81400000	Active TSS	Duodenum Smooth Muscle	Duodenum
24	chr6:81399600-81400800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr6:81399600-81401000	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr6:81399600-81401000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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