Variant report

Variant	nsv604697
Chromosome Location	chr6:132710831-132712307
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:57 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4895936	chr6:132710831-132710832	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs184657025	chr6:132710885-132710886	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs75148315	chr6:132710980-132710981	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs570840203	chr6:132711000-132711001	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs544579993	chr6:132711021-132711022	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs538234536	chr6:132711024-132711025	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs371239412	chr6:132711111-132711112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs62424861	chr6:132711186-132711187	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs2275393	chr6:132711192-132711193	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs2275394	chr6:132711200-132711201	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs187075356	chr6:132711239-132711240	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs146059226	chr6:132711243-132711244	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs368804205	chr6:132711274-132711275	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs191932156	chr6:132711277-132711278	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs140099289	chr6:132711278-132711279	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs149794166	chr6:132711315-132711316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs577174827	chr6:132711316-132711317	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs376391988	chr6:132711342-132711343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs541518361	chr6:132711360-132711361	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs546141576	chr6:132711397-132711398	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs184308407	chr6:132711424-132711425	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs189491010	chr6:132711425-132711426	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs181928558	chr6:132711427-132711428	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs185774714	chr6:132711467-132711468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs372438931	chr6:132711470-132711471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs527859951	chr6:132711522-132711523	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs547620441	chr6:132711599-132711600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs550958982	chr6:132711602-132711603	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs570727857	chr6:132711640-132711641	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs2275395	chr6:132711678-132711679	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs550214563	chr6:132711687-132711688	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs568823992	chr6:132711714-132711715	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs537487642	chr6:132711724-132711725	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs554627917	chr6:132711725-132711726	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs370053311	chr6:132711749-132711750	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs145828619	chr6:132711750-132711751	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs2275396	chr6:132711772-132711773	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs148973377	chr6:132711809-132711810	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs142982849	chr6:132711823-132711824	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs556225590	chr6:132711876-132711877	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs200023664	chr6:132711892-132711893	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs147734321	chr6:132711903-132711904	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs541889365	chr6:132711913-132711914	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs2275397	chr6:132711933-132711934	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs141961473	chr6:132711982-132711983	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs145813414	chr6:132711995-132711996	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs375717705	chr6:132711996-132711997	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs541151094	chr6:132712013-132712014	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs138649051	chr6:132712038-132712039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs531628550	chr6:132712048-132712049	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Autism	22495311	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
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Gastric cancer	17908304	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
Breast cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	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
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21785460	CNVD
Kartagener syndrome	16639409	CNVD
Breast cancer	17133270	CNVD
Follicular lymphoma	18703704	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Renal cell carcinoma	18592004	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:132701600-132713200	Weak transcription	Primary B cells from cord blood	blood
2	chr6:132704200-132712800	Weak transcription	HSMMtube	muscle
3	chr6:132706600-132711600	Weak transcription	Fetal Brain Male	brain
4	chr6:132707800-132711800	Weak transcription	NHLF	lung
5	chr6:132709000-132711800	Enhancers	NHDF-Ad	bronchial
6	chr6:132709000-132712800	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr6:132709200-132712800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr6:132709200-132712800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr6:132709400-132712000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr6:132709400-132712800	Enhancers	Fetal Lung	lung
11	chr6:132709600-132712800	Weak transcription	Fetal Kidney	kidney
12	chr6:132709800-132711800	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr6:132709800-132712000	Weak transcription	HMEC	breast
14	chr6:132709800-132712200	Weak transcription	Fetal Stomach	stomach
15	chr6:132709800-132712400	Weak transcription	NHEK	skin
16	chr6:132709800-132712600	Weak transcription	Fetal Brain Female	brain
17	chr6:132709800-132712600	Weak transcription	HSMM	muscle
18	chr6:132709800-132712600	Weak transcription	NH-A	brain
19	chr6:132709800-132713000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr6:132709800-132713000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr6:132709800-132713000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr6:132709800-132713000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr6:132709800-132713200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr6:132710000-132711000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr6:132710200-132712800	Weak transcription	Brain Germinal Matrix	brain
26	chr6:132710200-132712800	Weak transcription	Osteobl	bone
27	chr6:132710400-132711000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr6:132710400-132711600	Enhancers	Primary B cells from peripheral blood	blood
29	chr6:132710600-132712800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr6:132711000-132712800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr6:132711000-132712800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr6:132711600-132712800	Enhancers	Fetal Brain Male	brain
33	chr6:132711600-132713000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr6:132711600-132713800	Weak transcription	Primary B cells from peripheral blood	blood
35	chr6:132711800-132712000	Flanking Active TSS	NHDF-Ad	bronchial
36	chr6:132711800-132712800	Enhancers	NHLF	lung
37	chr6:132711800-132713000	Enhancers	Muscle Satellite Cultured Cells	--
38	chr6:132712000-132712800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr6:132712000-132712800	Enhancers	HMEC	breast
40	chr6:132712000-132712800	Enhancers	NHDF-Ad	bronchial
41	chr6:132712200-132712400	Enhancers	Fetal Stomach	stomach

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