Variant report

Variant	esv3329195
Chromosome Location	chr3:121295880-121299422
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:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-POLQ-1	chr3:121295924-121296127	expReg_chr3_8545_-

Extended variants
information (count: 162 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:162 , 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	rs530648071	chr3:121295959-121295960	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
2	rs199927212	chr3:121295989-121295990	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
3	rs550827607	chr3:121296029-121296030	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs373390328	chr3:121296032-121296033	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs372908262	chr3:121296048-121296049	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
6	rs72310523	chr3:121296049-121296050	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
7	rs564901155	chr3:121296050-121296051	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs57336438	chr3:121296062-121296063	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
9	rs71133553	chr3:121296063-121296064	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
10	rs375273247	chr3:121296074-121296075	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
11	rs76759995	chr3:121296076-121296077	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
12	rs79181092	chr3:121296079-121296080	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
13	rs200612067	chr3:121296091-121296092	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
14	rs9857488	chr3:121296106-121296107	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
15	rs374866574	chr3:121296108-121296109	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
16	rs576817810	chr3:121296161-121296162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs567236404	chr3:121296162-121296163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs149317296	chr3:121296168-121296169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs545777008	chr3:121296192-121296193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs375123736	chr3:121296271-121296272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs553320454	chr3:121296292-121296293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs61796958	chr3:121296326-121296327	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs566175743	chr3:121296344-121296345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs148707046	chr3:121296347-121296348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs558401961	chr3:121296362-121296363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs569410471	chr3:121296368-121296369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs142273627	chr3:121296397-121296398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs372503379	chr3:121296403-121296404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs555261280	chr3:121296422-121296423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs183946506	chr3:121296487-121296488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs575213449	chr3:121296499-121296500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs186855308	chr3:121296519-121296520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs540975542	chr3:121296643-121296644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs554199627	chr3:121296658-121296659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs190508221	chr3:121296713-121296714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs182389201	chr3:121296730-121296731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs562865552	chr3:121296790-121296791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs530699623	chr3:121296854-121296855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs544008004	chr3:121296875-121296876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs111243969	chr3:121296879-121296880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs186967148	chr3:121296880-121296881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs546529131	chr3:121296913-121296914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs566114777	chr3:121296964-121296965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs369272407	chr3:121296968-121296969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs35072728	chr3:121296988-121296989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs397877709	chr3:121296990-121296991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs191862158	chr3:121297034-121297035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs11709147	chr3:121297035-121297036	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs568869626	chr3:121297060-121297061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs182118635	chr3:121297061-121297062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:4 , 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

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