Variant report

Variant	esv33473
Chromosome Location	chr3:121296537-121301414
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	chr3:121298924..121301111-chr3:121307868..121309748,2	MCF-7	breast:

Extended variants
information (count: 196 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:196 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540975542	chr3:121296643-121296644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs554199627	chr3:121296658-121296659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs190508221	chr3:121296713-121296714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs182389201	chr3:121296730-121296731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs562865552	chr3:121296790-121296791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs530699623	chr3:121296854-121296855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs544008004	chr3:121296875-121296876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs111243969	chr3:121296879-121296880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs186967148	chr3:121296880-121296881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs546529131	chr3:121296913-121296914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs566114777	chr3:121296964-121296965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs369272407	chr3:121296968-121296969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs35072728	chr3:121296988-121296989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs397877709	chr3:121296990-121296991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs191862158	chr3:121297034-121297035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs11709147	chr3:121297035-121297036	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs568869626	chr3:121297060-121297061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs182118635	chr3:121297061-121297062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs555199754	chr3:121297062-121297063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs568711934	chr3:121297070-121297071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs809922	chr3:121297110-121297111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs187703180	chr3:121297124-121297125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs809921	chr3:121297171-121297172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs112753958	chr3:121297175-121297176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs813316	chr3:121297189-121297190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs577144113	chr3:121297194-121297195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs807967	chr3:121297196-121297197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs812101	chr3:121297210-121297211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs11716899	chr3:121297213-121297214	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs556576697	chr3:121297215-121297216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs794321	chr3:121297217-121297218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs11709159	chr3:121297233-121297234	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs193222326	chr3:121297362-121297363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs560738487	chr3:121297363-121297364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs72626321	chr3:121297401-121297402	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs367976362	chr3:121297426-121297427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs540113693	chr3:121297438-121297439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs185649674	chr3:121297470-121297471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs546553655	chr3:121297476-121297477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs532098117	chr3:121297491-121297492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs551889147	chr3:121297498-121297499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs190063659	chr3:121297506-121297507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs568881677	chr3:121297518-121297519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs34085338	chr3:121297520-121297521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs76344214	chr3:121297521-121297522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs397875270	chr3:121297536-121297537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs531426953	chr3:121297549-121297550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs373882362	chr3:121297579-121297580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs9846142	chr3:121297618-121297619	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs1709881	chr3:121297665-121297666	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Developmental delay	22180640	CNVD
Multiple myeloma	17550852	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
lymphocytic leukemia	21291569	CNVD
small cell lung cancer	20016488	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Autism	22241247	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:121293600-121311800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr3:121297600-121297800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
3	chr3:121297600-121297800	Enhancers	Pancreas	Pancrea
4	chr3:121297800-121300600	Weak transcription	Pancreas	Pancrea
5	chr3:121300600-121300800	Enhancers	Pancreas	Pancrea

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