Variant report

Variant	nsv514588
Chromosome Location	chr11:104924726-104931102
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 252 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:252 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562441	chr11:104924786-104924787	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs148991853	chr11:104924791-104924792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs528890226	chr11:104924807-104924808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs143755852	chr11:104924837-104924838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs562452305	chr11:104924871-104924872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs527968387	chr11:104924902-104924903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs182547633	chr11:104924937-104924938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs563562	chr11:104924938-104924939	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs187159949	chr11:104924965-104924966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs148132350	chr11:104924966-104924967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs12800151	chr11:104924978-104924979	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs535900780	chr11:104924995-104924996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs12798696	chr11:104924996-104924997	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs570444593	chr11:104925041-104925042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs546831692	chr11:104925045-104925046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs547005323	chr11:104925051-104925052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs140211629	chr11:104925053-104925054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs558003841	chr11:104925100-104925101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs568315265	chr11:104925109-104925110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs190429570	chr11:104925158-104925159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs61893972	chr11:104925216-104925217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs543197800	chr11:104925245-104925246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs538151512	chr11:104925263-104925264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs535363640	chr11:104925274-104925275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs113685586	chr11:104925292-104925293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs546950686	chr11:104925299-104925300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs573396777	chr11:104925306-104925307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs542254925	chr11:104925316-104925317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs374794521	chr11:104925361-104925362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs474484	chr11:104925367-104925368	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs572749552	chr11:104925368-104925369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs35255216	chr11:104925397-104925398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs541379124	chr11:104925408-104925409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs569941299	chr11:104925409-104925410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs564765383	chr11:104925453-104925454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs533599716	chr11:104925478-104925479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs550395752	chr11:104925491-104925492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs563814099	chr11:104925513-104925514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs181486946	chr11:104925593-104925594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs150312626	chr11:104925615-104925616	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs137911235	chr11:104925625-104925626	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs374962760	chr11:104925644-104925645	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs534984650	chr11:104925685-104925686	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs529275144	chr11:104925693-104925694	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs112513343	chr11:104925701-104925702	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs549514883	chr11:104925702-104925703	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs147228942	chr11:104925722-104925723	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs538435571	chr11:104925752-104925753	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs369156339	chr11:104925781-104925782	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs536891260	chr11:104925799-104925800	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	20729466	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Cervical cancer	21062161	CNVD
Esophageal squamous carcinoma	18350619	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	22429812	CNVD
Breast cancer	16608533	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16785998	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21958427	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17603634	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Basal cell lymphoma	16790693	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21364760	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Mental retardation	19966786	CNVD
Non-small cell lung cancer	21829676	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Intracranial aneurysm	16715129	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Ovarian cancer	21720365	CNVD
Chronic lymphocytic leukemia	17805327	CNVD
Glioblastoma multiforme	22286061	CNVD
Breast cancer	16397240	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Neuroblastoma	17327916	CNVD
Melanoma	17363583	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Mantle cell lymphoma	19029149	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant melanoma	17260012	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Prostate cancer	16573809	CNVD
Obesity	19966786	CNVD
Prostate cancer	18632612	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:104918200-104925200	Weak transcription	Ovary	ovary
2	chr11:104924600-104927000	Weak transcription	HepG2	liver
3	chr11:104925600-104926400	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr11:104926400-104931600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr11:104927000-104929200	Enhancers	HepG2	liver
6	chr11:104927000-104936200	Weak transcription	Small Intestine	intestine
7	chr11:104928400-104928800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr11:104929200-104930200	Weak transcription	HepG2	liver
9	chr11:104931000-104931200	Enhancers	HepG2	liver
10	chr11:104931000-104936800	Weak transcription	Primary T helper cells fromperipheralblood	blood

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