Variant report

Variant	nsv1022476
Chromosome Location	chr6:81284177-81294402
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 72 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:72 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs72903959	chr6:81287642-81287643	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs1454466	chr6:81287675-81287676	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs566949445	chr6:81287730-81287731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs182990805	chr6:81287734-81287735	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs552560141	chr6:81287737-81287738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs141689971	chr6:81287764-81287765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs187680907	chr6:81287765-81287766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs554612403	chr6:81287771-81287772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs568100901	chr6:81287790-81287791	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs533866781	chr6:81287854-81287855	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs9449084	chr6:81287867-81287868	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs576950344	chr6:81287868-81287869	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs541553359	chr6:81287960-81287961	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs539637005	chr6:81287966-81287967	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs556158127	chr6:81288014-81288015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs576289994	chr6:81288015-81288016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs553404565	chr6:81288084-81288085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs192396159	chr6:81288098-81288099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs78727053	chr6:81288109-81288110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs138965428	chr6:81288158-81288159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs534972386	chr6:81288178-81288179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs562253614	chr6:81288199-81288200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs540312654	chr6:81288233-81288234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs73477693	chr6:81288237-81288238	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs532568609	chr6:81288264-81288265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs552740764	chr6:81288292-81288293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs184767134	chr6:81288311-81288312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs532031729	chr6:81288337-81288338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs548943738	chr6:81288414-81288415	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs564125873	chr6:81288424-81288425	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs533807995	chr6:81288433-81288434	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs547483891	chr6:81288485-81288486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs570550070	chr6:81288503-81288504	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs578022115	chr6:81288535-81288536	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs539213776	chr6:81288553-81288554	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs556333523	chr6:81288563-81288564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs576199849	chr6:81288581-81288582	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs9449085	chr6:81288614-81288615	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs555271787	chr6:81288637-81288638	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs62406540	chr6:81288657-81288658	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs530715597	chr6:81288678-81288679	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs540252513	chr6:81288729-81288730	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs560337913	chr6:81288731-81288732	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs116611188	chr6:81288797-81288798	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs546019171	chr6:81288804-81288805	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs75164072	chr6:81288841-81288842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs556735226	chr6:81288853-81288854	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs13198295	chr6:81288882-81288883	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs542471404	chr6:81288896-81288897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs142101564	chr6:81288899-81288900	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
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
Breast cancer	21364760	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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:81287600-81287800	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr6:81287800-81288000	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr6:81287800-81288800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr6:81288200-81288400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr6:81288400-81289400	Enhancers	HSMM	muscle
6	chr6:81288800-81289000	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr6:81288800-81289200	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr6:81288800-81289200	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr6:81288800-81289200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr6:81288800-81289200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr6:81288800-81289200	Enhancers	Adipose Nuclei	Adipose

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