Variant report

Variant	nsv1034440
Chromosome Location	chr6:82002417-82044834
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 860 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:860 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9350923	chr6:82002417-82002418	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs560864514	chr6:82002431-82002432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs77242726	chr6:82002470-82002471	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs71771847	chr6:82002471-82002472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs16892955	chr6:82002499-82002500	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs141819299	chr6:82002560-82002561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs566725379	chr6:82002562-82002563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs532277784	chr6:82002635-82002636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs62425751	chr6:82002641-82002642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs139232933	chr6:82002679-82002680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs192040806	chr6:82002680-82002681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs369838401	chr6:82002681-82002682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs543283517	chr6:82002682-82002683	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs551912802	chr6:82002688-82002689	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs397886627	chr6:82002699-82002700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs79194546	chr6:82002700-82002701	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs551627297	chr6:82002794-82002795	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs150645232	chr6:82002807-82002808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs73751148	chr6:82002809-82002810	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs183542794	chr6:82002845-82002846	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs567691164	chr6:82002876-82002877	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs368773084	chr6:82002887-82002888	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs186878529	chr6:82002912-82002913	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs577441126	chr6:82002924-82002925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs74683958	chr6:82002989-82002990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs573527921	chr6:82003020-82003021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs545723720	chr6:82003030-82003031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs559331023	chr6:82003048-82003049	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs575904999	chr6:82003117-82003118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs146010709	chr6:82003119-82003120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs139915373	chr6:82003163-82003164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs143534960	chr6:82003164-82003165	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs76629861	chr6:82003171-82003172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs146259770	chr6:82003172-82003173	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs375148228	chr6:82003187-82003188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs557281598	chr6:82003199-82003200	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs368220596	chr6:82003207-82003208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs552051624	chr6:82003225-82003226	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs568842153	chr6:82003232-82003233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs531520546	chr6:82003240-82003241	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs548100837	chr6:82003340-82003341	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs191400993	chr6:82003374-82003375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs6918750	chr6:82003451-82003452	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs553288403	chr6:82003549-82003550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs566860888	chr6:82003581-82003582	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs117230503	chr6:82003602-82003603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs559270286	chr6:82003610-82003611	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs139107222	chr6:82003613-82003614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs544756664	chr6:82003632-82003633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs555607931	chr6:82003637-82003638	Enhancers	n/a	n/a	Overlapped CNVs	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
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
Cancer	20164919	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:82002000-82004800	Enhancers	Placenta Amnion	Placenta Amnion
2	chr6:82003000-82004200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr6:82003200-82004200	Enhancers	Placenta	Placenta
4	chr6:82004200-82007000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr6:82004200-82007400	Weak transcription	Placenta	Placenta
6	chr6:82007200-82007400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr6:82007400-82007800	Enhancers	Placenta	Placenta
8	chr6:82008400-82008800	Enhancers	Dnd41	blood
9	chr6:82008800-82010600	Weak transcription	Dnd41	blood
10	chr6:82010600-82011200	Enhancers	Dnd41	blood
11	chr6:82011200-82013800	Weak transcription	Dnd41	blood
12	chr6:82013800-82014800	Enhancers	HUVEC	blood vessel
13	chr6:82013800-82015600	Enhancers	Dnd41	blood
14	chr6:82014000-82015000	Enhancers	HSMM	muscle
15	chr6:82014000-82016200	Enhancers	Muscle Satellite Cultured Cells	--
16	chr6:82014000-82016400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr6:82014200-82014600	Enhancers	NHDF-Ad	bronchial
18	chr6:82014200-82015200	Enhancers	Osteobl	bone
19	chr6:82014200-82016400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr6:82014400-82014800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr6:82014400-82015000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr6:82014600-82015600	Weak transcription	NHDF-Ad	bronchial
23	chr6:82014800-82018400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr6:82015000-82016000	Weak transcription	HSMM	muscle
25	chr6:82015200-82015600	Weak transcription	Osteobl	bone
26	chr6:82015400-82016200	Enhancers	Adipose Nuclei	Adipose
27	chr6:82015600-82015800	Enhancers	NHDF-Ad	bronchial
28	chr6:82015600-82016000	Enhancers	Osteobl	bone
29	chr6:82015600-82016200	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr6:82015600-82016200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr6:82015800-82016200	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr6:82016000-82016200	Enhancers	Liver	Liver
33	chr6:82016000-82016200	Enhancers	HSMM	muscle
34	chr6:82016200-82017200	Weak transcription	Adipose Nuclei	Adipose
35	chr6:82016200-82018200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr6:82016400-82016800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr6:82016800-82018000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr6:82017200-82017600	Enhancers	Adipose Nuclei	Adipose
39	chr6:82018000-82018400	Enhancers	Liver	Liver
40	chr6:82018200-82019600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr6:82018400-82019200	Flanking Active TSS	Liver	Liver
42	chr6:82018400-82019400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr6:82019200-82019400	Enhancers	Liver	Liver
44	chr6:82035600-82036600	Enhancers	Dnd41	blood
45	chr6:82035600-82036600	Enhancers	Osteobl	bone
46	chr6:82036200-82036800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr6:82036400-82036600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr6:82036400-82036600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr6:82036400-82036800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr6:82036600-82037000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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