Variant report

Variant	nsv605931
Chromosome Location	chr7:3654783-3655447
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:3650446..3652502-chr7:3655244..3656781,2	MCF-7	breast:

Extended variants
information (count: 54 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:54 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs180851400	chr7:3654787-3654788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs531516212	chr7:3654788-3654789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs146900667	chr7:3654792-3654793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs1202223	chr7:3654800-3654801	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs533582137	chr7:3654806-3654807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs547069442	chr7:3654808-3654809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs567272927	chr7:3654853-3654854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs536013843	chr7:3654868-3654869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs373948231	chr7:3654890-3654891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs540389472	chr7:3654899-3654900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs185456538	chr7:3654916-3654917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs541982760	chr7:3654918-3654919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs189926866	chr7:3654920-3654921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs558531467	chr7:3654921-3654922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs114798128	chr7:3654930-3654931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs542503592	chr7:3654931-3654932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs540657283	chr7:3654960-3654961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs183696647	chr7:3654966-3654967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs554209158	chr7:3654969-3654970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs139288197	chr7:3654997-3654998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs374767385	chr7:3655023-3655024	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs143208251	chr7:3655026-3655027	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs2060179	chr7:3655037-3655038	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs189082223	chr7:3655038-3655039	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs73673648	chr7:3655067-3655068	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs564869865	chr7:3655078-3655079	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs191385289	chr7:3655090-3655091	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs547005259	chr7:3655120-3655121	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs567313735	chr7:3655122-3655123	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs62437884	chr7:3655129-3655130	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs572743459	chr7:3655136-3655137	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs529754931	chr7:3655139-3655140	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs549897717	chr7:3655152-3655153	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs146767780	chr7:3655186-3655187	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs150745990	chr7:3655195-3655196	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs538476872	chr7:3655210-3655211	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs558469854	chr7:3655223-3655224	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs571989859	chr7:3655224-3655225	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs371763369	chr7:3655240-3655241	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs534146438	chr7:3655287-3655288	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs553885811	chr7:3655310-3655311	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs74751097	chr7:3655319-3655320	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs183841330	chr7:3655320-3655321	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs564734668	chr7:3655322-3655323	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs575815437	chr7:3655324-3655325	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs139072160	chr7:3655340-3655341	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs564804706	chr7:3655367-3655368	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs186967611	chr7:3655376-3655377	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs540976047	chr7:3655379-3655380	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs373550517	chr7:3655384-3655385	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Chordoma	21602918	CNVD
Lynch syndrome	22585707	CNVD
Follicular lymphoma	20505157	CNVD
Breast cancer	16397240	CNVD
Raine Syndrome	17924334	CNVD
Diffuse large b-cell lymphoma	21266526	CNVD
Melanoma	18172304	CNVD
Sudden cardiac death	19188705	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Glioma	18556773	CNVD
Ovarian cancer	21720365	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Developmental delay	21147756	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Nasopharyngeal cancer	20548289	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
Spondylocostal dysostosis	21085971	CNVD
Mental retardation	17901693	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	22286061	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	20164920	CNVD
Pancreatic cancer	17952125	CNVD
Colorectal cancer	21645411	CNVD
Intellectual disability	21811512	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:3636400-3655800	Weak transcription	Aorta	Aorta
2	chr7:3645200-3660400	Weak transcription	HepG2	liver
3	chr7:3646400-3657200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr7:3649600-3673400	Weak transcription	Pancreas	Pancrea
5	chr7:3654400-3655200	Weak transcription	Fetal Brain Male	brain
6	chr7:3654400-3667600	Weak transcription	Colon Smooth Muscle	Colon
7	chr7:3655000-3655400	Active TSS	Fetal Lung	lung
8	chr7:3655200-3655600	Enhancers	Fetal Brain Male	brain
9	chr7:3655400-3655600	Enhancers	Fetal Intestine Large	intestine
10	chr7:3655400-3662000	Weak transcription	Fetal Lung	lung

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