Variant report

Variant	nsv604669
Chromosome Location	chr6:132702249-132712307
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 410 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:410 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4897579	chr6:132702249-132702250	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs76982427	chr6:132702253-132702254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs111337032	chr6:132702287-132702288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs575834021	chr6:132702389-132702390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs538422377	chr6:132702413-132702414	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs555165089	chr6:132702428-132702429	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs574997008	chr6:132702429-132702430	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs60797397	chr6:132702483-132702484	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs540525181	chr6:132702505-132702506	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs577074756	chr6:132702508-132702509	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs144537786	chr6:132702537-132702538	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs183410907	chr6:132702543-132702544	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs74298504	chr6:132702571-132702572	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs185919961	chr6:132702624-132702625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs371200957	chr6:132702634-132702635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs372254904	chr6:132702660-132702661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs544651560	chr6:132702661-132702662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs191664927	chr6:132702666-132702667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs6922775	chr6:132702681-132702682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs145598753	chr6:132702711-132702712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs560872346	chr6:132702736-132702737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs529907850	chr6:132702773-132702774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs546569031	chr6:132702807-132702808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs187911154	chr6:132702838-132702839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs9375879	chr6:132702863-132702864	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs552635655	chr6:132702881-132702882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs569288573	chr6:132702885-132702886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs13219729	chr6:132702896-132702897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs558858223	chr6:132702907-132702908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs577116660	chr6:132702909-132702910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs538311980	chr6:132702932-132702933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs534736017	chr6:132703065-132703066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs555105980	chr6:132703100-132703101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs568522295	chr6:132703119-132703120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs534448240	chr6:132703204-132703205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs148718973	chr6:132703209-132703210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs375787706	chr6:132703213-132703214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs577494850	chr6:132703240-132703241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs192965992	chr6:132703289-132703290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs182190889	chr6:132703301-132703302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs111518377	chr6:132703347-132703348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs6923939	chr6:132703370-132703371	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs370337351	chr6:132703426-132703427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs78899166	chr6:132703448-132703449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs542277964	chr6:132703450-132703451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs78607154	chr6:132703491-132703492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs561077867	chr6:132703538-132703539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs563351045	chr6:132703587-132703588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs186796741	chr6:132703588-132703589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs192337304	chr6:132703659-132703660	Weak transcription	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:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:132682200-132705800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr6:132692600-132709200	Weak transcription	Fetal Kidney	kidney
3	chr6:132693200-132709400	Weak transcription	Fetal Lung	lung
4	chr6:132694400-132705400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr6:132694600-132705800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr6:132700000-132702400	Weak transcription	NHDF-Ad	bronchial
7	chr6:132701600-132709000	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr6:132701600-132709400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr6:132701600-132713200	Weak transcription	Primary B cells from cord blood	blood
10	chr6:132702000-132709400	Weak transcription	Osteobl	bone
11	chr6:132702400-132702600	Enhancers	NHDF-Ad	bronchial
12	chr6:132702600-132704200	Weak transcription	NHDF-Ad	bronchial
13	chr6:132703800-132704200	Enhancers	HSMMtube	muscle
14	chr6:132704200-132704800	Strong transcription	NHDF-Ad	bronchial
15	chr6:132704200-132712800	Weak transcription	HSMMtube	muscle
16	chr6:132704800-132705400	Weak transcription	NHDF-Ad	bronchial
17	chr6:132705400-132706400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr6:132705400-132706400	Strong transcription	NHDF-Ad	bronchial
19	chr6:132705800-132706400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr6:132705800-132706400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr6:132706400-132707600	Weak transcription	NHDF-Ad	bronchial
22	chr6:132706400-132709200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr6:132706400-132709200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr6:132706400-132709400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr6:132706600-132711600	Weak transcription	Fetal Brain Male	brain
26	chr6:132707600-132707800	Strong transcription	NHDF-Ad	bronchial
27	chr6:132707800-132709000	Weak transcription	NHDF-Ad	bronchial
28	chr6:132707800-132711800	Weak transcription	NHLF	lung
29	chr6:132709000-132711800	Enhancers	NHDF-Ad	bronchial
30	chr6:132709000-132712800	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr6:132709200-132709600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr6:132709200-132709600	Enhancers	Fetal Kidney	kidney
33	chr6:132709200-132709800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr6:132709200-132709800	Enhancers	NHEK	skin
35	chr6:132709200-132712800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr6:132709200-132712800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr6:132709400-132709600	Enhancers	Fetal Stomach	stomach
38	chr6:132709400-132709800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr6:132709400-132709800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr6:132709400-132709800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr6:132709400-132709800	Enhancers	Muscle Satellite Cultured Cells	--
42	chr6:132709400-132709800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr6:132709400-132709800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr6:132709400-132709800	Enhancers	HMEC	breast
45	chr6:132709400-132709800	Enhancers	HSMM	muscle
46	chr6:132709400-132709800	Enhancers	NH-A	brain
47	chr6:132709400-132710000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr6:132709400-132710000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr6:132709400-132710200	Enhancers	Brain Germinal Matrix	brain
50	chr6:132709400-132710200	Enhancers	Osteobl	bone

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