Variant report

Variant	nsv1032153
Chromosome Location	chr6:75590017-75625051
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:75610525..75612245-chr6:75914237..75915878,2	MCF-7	breast:
2	chr6:75608999..75611267-chr6:75912636..75915418,2	MCF-7	breast:
3	chr6:75609148..75609683-chr6:75913367..75914426,3	MCF-7	breast:
4	chr6:75623758..75626363-chr6:75914057..75916388,2	MCF-7	breast:
5	chr6:75589124..75590939-chr6:75914285..75915811,2	MCF-7	breast:
6	chr6:75609173..75609713-chr6:75911685..75912571,2	MCF-7	breast:
7	chr6:75622208..75624628-chr6:75629968..75631581,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000111799	chromatin interactions

Extended variants
information (count: 824 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:824 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531522199	chr6:75590017-75590018	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs367670385	chr6:75590021-75590022	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs79074021	chr6:75590052-75590053	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs530086498	chr6:75590076-75590077	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs548313933	chr6:75590093-75590094	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs189356319	chr6:75590130-75590131	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs78622019	chr6:75590131-75590132	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs76229528	chr6:75590149-75590150	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs568719399	chr6:75590179-75590180	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs375885496	chr6:75590202-75590203	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs74647141	chr6:75590256-75590257	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs113946034	chr6:75590296-75590297	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs140300643	chr6:75590336-75590337	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs181217404	chr6:75590391-75590392	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs535423105	chr6:75590400-75590401	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs554086319	chr6:75590416-75590417	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs553754520	chr6:75590434-75590435	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs35267328	chr6:75590482-75590483	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs7755906	chr6:75590535-75590536	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs545880640	chr6:75590541-75590542	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs564294756	chr6:75590613-75590614	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs184111058	chr6:75590629-75590630	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs9447333	chr6:75590636-75590637	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs188796555	chr6:75590683-75590684	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs562005364	chr6:75590697-75590698	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs574163575	chr6:75590722-75590723	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs542761470	chr6:75590736-75590737	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs560076820	chr6:75590757-75590758	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs544775215	chr6:75590775-75590776	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs564747640	chr6:75590804-75590805	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs554365559	chr6:75590819-75590820	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs552227115	chr6:75590833-75590834	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs9443099	chr6:75590841-75590842	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs6453789	chr6:75590856-75590857	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs145191170	chr6:75590863-75590864	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs561278039	chr6:75590868-75590869	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs568734745	chr6:75590885-75590886	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs533734727	chr6:75590886-75590887	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs553817571	chr6:75590902-75590903	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs572042916	chr6:75590908-75590909	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs137888601	chr6:75590920-75590921	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs557815391	chr6:75590937-75590938	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs186067054	chr6:75590949-75590950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs543598262	chr6:75590975-75590976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs75311821	chr6:75591019-75591020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs6453790	chr6:75591021-75591022	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs540895249	chr6:75591083-75591084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs560139565	chr6:75591099-75591100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs140878157	chr6:75591120-75591121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs374157394	chr6:75591143-75591144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

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
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	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
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Lung cancer	18438408	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
Malignant fibrous histiocytomas	21085701	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
Ovarian cancer	17437010	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Mental retardation	17124404	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Multiple myeloma	16616336	CNVD
Acute myeloid leukemia	16864856	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Developmental delay	21147756	CNVD
Chronic lymphocytic leukemia	21546498	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
Myelodysplastic syndrome	18508791	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	23813976	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:75588400-75590400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr6:75588600-75590200	Enhancers	NHDF-Ad	bronchial
3	chr6:75588800-75590600	Enhancers	Osteobl	bone
4	chr6:75589600-75591400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr6:75589600-75591600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr6:75589600-75599400	Weak transcription	NHLF	lung
7	chr6:75589600-75601000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr6:75589800-75590200	Weak transcription	HSMMtube	muscle
9	chr6:75590000-75591600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr6:75590200-75590400	Enhancers	HSMMtube	muscle
11	chr6:75590400-75591400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr6:75590400-75592000	Weak transcription	HSMMtube	muscle
13	chr6:75590600-75591600	Weak transcription	Osteobl	bone
14	chr6:75591400-75592000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr6:75591400-75592400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr6:75591600-75591800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr6:75591600-75592200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr6:75591600-75592200	Enhancers	Osteobl	bone
19	chr6:75592000-75592200	Enhancers	HSMMtube	muscle
20	chr6:75598600-75598800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr6:75598600-75598800	Enhancers	Ovary	ovary
22	chr6:75598800-75600800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr6:75598800-75601000	Weak transcription	Ovary	ovary
24	chr6:75599400-75599600	Enhancers	NHLF	lung
25	chr6:75599400-75599800	Enhancers	Osteobl	bone
26	chr6:75599600-75600400	Weak transcription	NHLF	lung
27	chr6:75599800-75600800	Weak transcription	Osteobl	bone
28	chr6:75600400-75602000	Enhancers	NHLF	lung
29	chr6:75600600-75600800	Enhancers	NHDF-Ad	bronchial
30	chr6:75600800-75601000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr6:75600800-75601200	Flanking Active TSS	NHDF-Ad	bronchial
32	chr6:75600800-75601400	Enhancers	HSMMtube	muscle
33	chr6:75600800-75601600	Enhancers	Adipose Nuclei	Adipose
34	chr6:75600800-75601600	Enhancers	Fetal Muscle Leg	muscle
35	chr6:75600800-75601600	Enhancers	Fetal Stomach	stomach
36	chr6:75600800-75601800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr6:75600800-75602000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr6:75600800-75602000	Enhancers	Fetal Kidney	kidney
39	chr6:75600800-75602000	Enhancers	Rectal Smooth Muscle	rectum
40	chr6:75600800-75602200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr6:75600800-75602200	Enhancers	Muscle Satellite Cultured Cells	--
42	chr6:75600800-75602200	Enhancers	Fetal Lung	lung
43	chr6:75600800-75602600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr6:75600800-75602800	Enhancers	Osteobl	bone
45	chr6:75601000-75601200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr6:75601000-75601200	Enhancers	Ovary	ovary
47	chr6:75601000-75601400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr6:75601000-75601400	Enhancers	Stomach Smooth Muscle	stomach
49	chr6:75601000-75601400	Enhancers	HSMM	muscle
50	chr6:75601000-75601600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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