Variant report

Variant	nsv970148
Chromosome Location	chr6:85901688-85904720
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 66 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:66 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs58739470	chr6:85901730-85901731	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs3966883	chr6:85901744-85901745	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs150299930	chr6:85901778-85901779	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs4053811	chr6:85901798-85901799	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs1321752	chr6:85901826-85901827	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs56988579	chr6:85901833-85901834	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs536739039	chr6:85901886-85901887	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs4053812	chr6:85901897-85901898	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs569383487	chr6:85901908-85901909	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs137858361	chr6:85901910-85901911	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs537751873	chr6:85901983-85901984	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs578014787	chr6:85901991-85901992	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs558957466	chr6:85902020-85902021	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs543915788	chr6:85902036-85902037	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs58193637	chr6:85902056-85902057	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs541263177	chr6:85902085-85902086	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs559500320	chr6:85902095-85902096	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs1590235	chr6:85902126-85902127	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs1590236	chr6:85902138-85902139	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs1590237	chr6:85902191-85902192	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs73752205	chr6:85902198-85902199	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs534072596	chr6:85902203-85902204	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs9344467	chr6:85902336-85902337	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs9344468	chr6:85902366-85902367	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs9353253	chr6:85902375-85902376	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs77156022	chr6:85902391-85902392	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs146916142	chr6:85902415-85902416	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs530220262	chr6:85902444-85902445	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs548346659	chr6:85902445-85902446	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs570054162	chr6:85902470-85902471	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs537017305	chr6:85902495-85902496	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs555907592	chr6:85902536-85902537	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs570838244	chr6:85902549-85902550	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs9450182	chr6:85902579-85902580	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs9444303	chr6:85902585-85902586	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs115245901	chr6:85902592-85902593	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs192269408	chr6:85902677-85902678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs117015259	chr6:85902684-85902685	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs554343019	chr6:85902690-85902691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs117279347	chr6:85902709-85902710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs139330721	chr6:85902710-85902711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs564869004	chr6:85902712-85902713	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs549448672	chr6:85902719-85902720	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs532488337	chr6:85902722-85902723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs569450882	chr6:85902747-85902748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs117756274	chr6:85902796-85902797	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs529822034	chr6:85902799-85902800	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs184560311	chr6:85902840-85902841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs190660787	chr6:85902884-85902885	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs535227875	chr6:85902896-85902897	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

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
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
Lung adenocarcinoma	21935476	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
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
craniofacial dysmorphism	21918468	CNVD
Myelofibrosis	22110671	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21364760	CNVD
abnormal development	18461090	CNVD
Myelodysplastic syndrome	18508791	CNVD
Acute lymphoblastic leukemia	21098271	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:85897600-85902600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr6:85900600-85903000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr6:85901000-85903000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr6:85901200-85902400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr6:85901200-85903000	Enhancers	Osteobl	bone
6	chr6:85901600-85902200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr6:85901600-85902200	Enhancers	Muscle Satellite Cultured Cells	--
8	chr6:85901600-85902800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr6:85901600-85902800	Enhancers	NHDF-Ad	bronchial
10	chr6:85901600-85903200	Enhancers	HMEC	breast
11	chr6:85901800-85902800	Enhancers	HSMMtube	muscle
12	chr6:85902000-85902600	Enhancers	HSMM	muscle
13	chr6:85902400-85902800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr6:85902600-85903000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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