Variant report

Variant	nsv604684
Chromosome Location	chr6:132709027-132711678
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 89 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:89 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9493301	chr6:132709027-132709028	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs9375884	chr6:132709033-132709034	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs142749016	chr6:132709036-132709037	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs79662444	chr6:132709047-132709048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs144568070	chr6:132709060-132709061	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs148029169	chr6:132709124-132709125	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs548316537	chr6:132709165-132709166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs188139290	chr6:132709206-132709207	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs117636596	chr6:132709216-132709217	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs141800103	chr6:132709217-132709218	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs368498706	chr6:132709220-132709221	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs568777407	chr6:132709221-132709222	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs538477933	chr6:132709235-132709236	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs372424334	chr6:132709290-132709291	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs554941411	chr6:132709295-132709296	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs568207567	chr6:132709412-132709413	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs180797835	chr6:132709480-132709481	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs375663756	chr6:132709528-132709529	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs186189822	chr6:132709655-132709656	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs150580472	chr6:132709683-132709684	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs552523995	chr6:132709710-132709711	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs190366993	chr6:132709721-132709722	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs544663730	chr6:132709733-132709734	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs564682437	chr6:132709776-132709777	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs182557023	chr6:132709787-132709788	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs544425482	chr6:132709789-132709790	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs186575975	chr6:132709814-132709815	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs190512008	chr6:132709830-132709831	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs529970554	chr6:132709845-132709846	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs181075558	chr6:132709848-132709849	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs560479662	chr6:132709853-132709854	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs539955331	chr6:132709903-132709904	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs185406983	chr6:132709945-132709946	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs552701062	chr6:132709981-132709982	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs190219014	chr6:132710039-132710040	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs369143512	chr6:132710053-132710054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs182199701	chr6:132710067-132710068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs568583168	chr6:132710080-132710081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs534458983	chr6:132710091-132710092	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs188034495	chr6:132710107-132710108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs191829705	chr6:132710143-132710144	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs533631238	chr6:132710148-132710149	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs551939756	chr6:132710234-132710235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs184070013	chr6:132710325-132710326	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs188276995	chr6:132710337-132710338	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs376895562	chr6:132710374-132710375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs553482987	chr6:132710386-132710387	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs73547919	chr6:132710394-132710395	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs139527257	chr6:132710413-132710414	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs574553521	chr6:132710476-132710477	Enhancers 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:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:132692600-132709200	Weak transcription	Fetal Kidney	kidney
2	chr6:132693200-132709400	Weak transcription	Fetal Lung	lung
3	chr6:132701600-132709400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr6:132701600-132713200	Weak transcription	Primary B cells from cord blood	blood
5	chr6:132702000-132709400	Weak transcription	Osteobl	bone
6	chr6:132704200-132712800	Weak transcription	HSMMtube	muscle
7	chr6:132706400-132709200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr6:132706400-132709200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr6:132706400-132709400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr6:132706600-132711600	Weak transcription	Fetal Brain Male	brain
11	chr6:132707800-132711800	Weak transcription	NHLF	lung
12	chr6:132709000-132711800	Enhancers	NHDF-Ad	bronchial
13	chr6:132709000-132712800	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr6:132709200-132709600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr6:132709200-132709600	Enhancers	Fetal Kidney	kidney
16	chr6:132709200-132709800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr6:132709200-132709800	Enhancers	NHEK	skin
18	chr6:132709200-132712800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr6:132709200-132712800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr6:132709400-132709600	Enhancers	Fetal Stomach	stomach
21	chr6:132709400-132709800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr6:132709400-132709800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr6:132709400-132709800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr6:132709400-132709800	Enhancers	Muscle Satellite Cultured Cells	--
25	chr6:132709400-132709800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr6:132709400-132709800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr6:132709400-132709800	Enhancers	HMEC	breast
28	chr6:132709400-132709800	Enhancers	HSMM	muscle
29	chr6:132709400-132709800	Enhancers	NH-A	brain
30	chr6:132709400-132710000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr6:132709400-132710000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr6:132709400-132710200	Enhancers	Brain Germinal Matrix	brain
33	chr6:132709400-132710200	Enhancers	Osteobl	bone
34	chr6:132709400-132710600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr6:132709400-132712000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr6:132709400-132712800	Enhancers	Fetal Lung	lung
37	chr6:132709600-132709800	Enhancers	Fetal Brain Female	brain
38	chr6:132709600-132712800	Weak transcription	Fetal Kidney	kidney
39	chr6:132709800-132711800	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr6:132709800-132712000	Weak transcription	HMEC	breast
41	chr6:132709800-132712200	Weak transcription	Fetal Stomach	stomach
42	chr6:132709800-132712400	Weak transcription	NHEK	skin
43	chr6:132709800-132712600	Weak transcription	Fetal Brain Female	brain
44	chr6:132709800-132712600	Weak transcription	HSMM	muscle
45	chr6:132709800-132712600	Weak transcription	NH-A	brain
46	chr6:132709800-132713000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr6:132709800-132713000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr6:132709800-132713000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr6:132709800-132713000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr6:132709800-132713200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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