Variant report

Variant	esv3475526
Chromosome Location	chr7:3654054-3655866
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: 126 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:126 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145074996	chr7:3654058-3654059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs183759625	chr7:3654069-3654070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs189259598	chr7:3654085-3654086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs545953281	chr7:3654098-3654099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs182231328	chr7:3654116-3654117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs575035739	chr7:3654200-3654201	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs187568410	chr7:3654222-3654223	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs11979940	chr7:3654223-3654224	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs375212516	chr7:3654227-3654228	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs79005016	chr7:3654233-3654234	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs576054913	chr7:3654234-3654235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs575573214	chr7:3654244-3654245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs539142883	chr7:3654248-3654249	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs189854208	chr7:3654265-3654266	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs145758036	chr7:3654292-3654293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs565098312	chr7:3654314-3654315	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs546772670	chr7:3654320-3654321	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs560388523	chr7:3654365-3654366	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs200513637	chr7:3654371-3654372	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs549241870	chr7:3654383-3654384	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs371799009	chr7:3654384-3654385	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs182012596	chr7:3654388-3654389	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs148929342	chr7:3654414-3654415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs143633078	chr7:3654418-3654419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs370603780	chr7:3654468-3654469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs570969649	chr7:3654487-3654488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs533644452	chr7:3654502-3654503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs547293146	chr7:3654509-3654510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs553497070	chr7:3654519-3654520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs565678523	chr7:3654548-3654549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs557960725	chr7:3654557-3654558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs573375092	chr7:3654561-3654562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs535698792	chr7:3654563-3654564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs539253899	chr7:3654608-3654609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs185529042	chr7:3654612-3654613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs148173368	chr7:3654668-3654669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs11982655	chr7:3654697-3654698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs190442576	chr7:3654703-3654704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs578107629	chr7:3654717-3654718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs540722382	chr7:3654728-3654729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs560604797	chr7:3654736-3654737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs572974824	chr7:3654744-3654745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs548925034	chr7:3654746-3654747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs79040417	chr7:3654757-3654758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs556571458	chr7:3654774-3654775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs180851400	chr7:3654787-3654788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs531516212	chr7:3654788-3654789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs146900667	chr7:3654792-3654793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs1202223	chr7:3654800-3654801	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs533582137	chr7:3654806-3654807	Weak transcription	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:13 , 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	chr7:3654200-3654400	Enhancers	Fetal Brain Male	brain
6	chr7:3654400-3655200	Weak transcription	Fetal Brain Male	brain
7	chr7:3654400-3667600	Weak transcription	Colon Smooth Muscle	Colon
8	chr7:3655000-3655400	Active TSS	Fetal Lung	lung
9	chr7:3655200-3655600	Enhancers	Fetal Brain Male	brain
10	chr7:3655400-3655600	Enhancers	Fetal Intestine Large	intestine
11	chr7:3655400-3662000	Weak transcription	Fetal Lung	lung
12	chr7:3655600-3656200	Enhancers	Gastric	stomach
13	chr7:3655800-3656200	ZNF genes & repeats	Aorta	Aorta

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