Variant report

Variant	nsv886318
Chromosome Location	chr6:81447367-81769538
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:81735393..81738316-chr6:81740944..81743334,2	K562	blood:
2	chr6:81731744..81734648-chr6:81746656..81748984,2	K562	blood:
3	chr6:81639861..81642496-chr6:81657768..81659488,2	K562	blood:
4	chr6:81731744..81734648-chr6:81746656..81748984,2	K562	blood:
5	chr6:81735393..81738316-chr6:81740944..81743334,2	K562	blood:
6	chr6:81713030..81715719-chr6:81717371..81719570,2	MCF-7	breast:
7	chr6:81383718..81384315-chr6:81452032..81452789,2	MCF-7	breast:
8	chr6:81654232..81656742-chr6:81662594..81664645,2	K562	blood:
9	chr6:81656427..81658412-chr6:81659055..81660957,2	K562	blood:
10	chr6:81475807..81477610-chr6:81479287..81482021,2	MCF-7	breast:
11	chr6:81681010..81683016-chr6:81684816..81687356,2	MCF-7	breast:
12	chr6:81521173..81524093-chr6:81524294..81526151,2	MCF-7	breast:
13	chr6:81475807..81477610-chr6:81479287..81482021,2	MCF-7	breast:
14	chr6:81521173..81524093-chr6:81524294..81526151,2	MCF-7	breast:
15	chr6:81656427..81658412-chr6:81659055..81660957,2	K562	blood:
16	chr6:81639861..81642496-chr6:81657768..81659488,2	K562	blood:
17	chr6:81654232..81656742-chr6:81662594..81664645,2	K562	blood:
18	chr6:81656912..81658569-chr6:81659055..81661671,2	K562	blood:
19	chr6:81681010..81683016-chr6:81684816..81687356,2	MCF-7	breast:
20	chr6:81713030..81715719-chr6:81717371..81719570,2	MCF-7	breast:
21	chr6:81452134..81452854-chr6:82175477..82176222,3	MCF-7	breast:
22	chr6:81656912..81658569-chr6:81659055..81661671,2	K562	blood:

No data

Extended variants
information (count: 3770 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:3770 , 50 per page) page: 1 2 3 4 5 6 7 ... 76

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369608651	chr6:81451803-81451804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs570508961	chr6:81451832-81451833	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs73465704	chr6:81451838-81451839	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs556222025	chr6:81451882-81451883	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs141180542	chr6:81451893-81451894	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs77055355	chr6:81451894-81451895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs77749003	chr6:81451920-81451921	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs35657455	chr6:81451950-81451951	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs371264152	chr6:81451962-81451963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs545928606	chr6:81451993-81451994	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs9344040	chr6:81451994-81451995	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs35747646	chr6:81452012-81452013	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs577699383	chr6:81452015-81452016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs34884967	chr6:81452016-81452017	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs563296777	chr6:81452027-81452028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs374163334	chr6:81452040-81452041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs73465708	chr6:81452048-81452049	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs559066316	chr6:81452088-81452089	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs375266663	chr6:81452140-81452141	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs113726283	chr6:81452159-81452160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs562430739	chr6:81452160-81452161	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs546344320	chr6:81452188-81452189	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs370199314	chr6:81452189-81452190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs551238313	chr6:81452196-81452197	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs79062646	chr6:81452321-81452322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs531365605	chr6:81452322-81452323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs34125957	chr6:81452344-81452345	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs9359427	chr6:81452384-81452385	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs569715717	chr6:81452409-81452410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs9341825	chr6:81452534-81452535	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs555619314	chr6:81452556-81452557	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs566243838	chr6:81452587-81452588	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs534942723	chr6:81452589-81452590	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs149613194	chr6:81452593-81452594	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs578243615	chr6:81452605-81452606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs71566908	chr6:81452606-81452607	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs73465709	chr6:81452661-81452662	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs541823320	chr6:81452666-81452667	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs368547800	chr6:81452679-81452680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs185800024	chr6:81452689-81452690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs77939569	chr6:81452690-81452691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs559210270	chr6:81452703-81452704	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs190332115	chr6:81452709-81452710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs12195620	chr6:81452725-81452726	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs548985212	chr6:81452737-81452738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs544770778	chr6:81452759-81452760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs528074590	chr6:81452784-81452785	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs370107999	chr6:81469813-81469814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs573853956	chr6:81469836-81469837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs12662746	chr6:81469851-81469852	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:107)

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
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:222 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:81451800-81452800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr6:81452200-81452800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr6:81469800-81472400	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr6:81472400-81473000	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr6:81473000-81480600	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr6:81476200-81479600	Enhancers	Muscle Satellite Cultured Cells	--
7	chr6:81476200-81479800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr6:81476400-81479600	Enhancers	NHDF-Ad	bronchial
9	chr6:81476600-81476800	Enhancers	NHLF	lung
10	chr6:81476600-81478400	Enhancers	Osteobl	bone
11	chr6:81476800-81477800	Weak transcription	NHLF	lung
12	chr6:81476800-81479600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr6:81477200-81478000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr6:81477200-81479000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr6:81477800-81478200	Enhancers	NHLF	lung
16	chr6:81477800-81479400	Enhancers	Adipose Nuclei	Adipose
17	chr6:81478000-81478400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr6:81478000-81478400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr6:81478400-81478800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr6:81478400-81478800	Weak transcription	Osteobl	bone
21	chr6:81478800-81479600	Enhancers	Osteobl	bone
22	chr6:81480600-81480800	Enhancers	Pancreatic Islets	Pancreatic Islet
23	chr6:81480800-81481200	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr6:81481200-81482200	Enhancers	Pancreatic Islets	Pancreatic Islet
25	chr6:81482200-81482800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr6:81491400-81492000	ZNF genes & repeats	Pancreas	Pancrea
27	chr6:81497200-81497400	Active TSS	Muscle Satellite Cultured Cells	--
28	chr6:81497200-81497600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr6:81497400-81497600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
30	chr6:81497400-81497800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr6:81497400-81498000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr6:81497400-81498000	Active TSS	Pancreatic Islets	Pancreatic Islet
33	chr6:81497400-81498000	Enhancers	NHLF	lung
34	chr6:81497400-81498000	Active TSS	Osteobl	bone
35	chr6:81497600-81498000	Enhancers	Muscle Satellite Cultured Cells	--
36	chr6:81497600-81499400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr6:81497800-81498200	Enhancers	Aorta	Aorta
38	chr6:81497800-81498200	Enhancers	Psoas Muscle	Psoas
39	chr6:81497800-81499600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr6:81498000-81498200	Enhancers	Colon Smooth Muscle	Colon
41	chr6:81498000-81498200	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
42	chr6:81498000-81499400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr6:81498000-81499600	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr6:81498000-81499800	Weak transcription	NHLF	lung
45	chr6:81498000-81499800	Weak transcription	Osteobl	bone
46	chr6:81498600-81499800	Weak transcription	Colon Smooth Muscle	Colon
47	chr6:81499400-81499800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr6:81499400-81500400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr6:81499400-81502200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr6:81499600-81500200	Enhancers	Adipose Nuclei	Adipose

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