Variant report

Variant	esv3399049
Chromosome Location	chr11:101418642-101419790
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:53 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558059734	chr11:101418647-101418648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs373238419	chr11:101418670-101418671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs557450998	chr11:101418709-101418710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs574041476	chr11:101418733-101418734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs543055020	chr11:101418737-101418738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs185556798	chr11:101418819-101418820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs572341109	chr11:101418825-101418826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs4754771	chr11:101418845-101418846	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs563963478	chr11:101418938-101418939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs7942189	chr11:101418944-101418945	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs543121786	chr11:101418979-101418980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs560363250	chr11:101418981-101418982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs200983258	chr11:101418990-101418991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs199523271	chr11:101418992-101418993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs10633400	chr11:101418993-101418994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs60683926	chr11:101419004-101419005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs28612748	chr11:101419005-101419006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs60991578	chr11:101419006-101419007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs56777096	chr11:101419007-101419008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs71303295	chr11:101419011-101419012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs371108280	chr11:101419018-101419019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs58777127	chr11:101419020-101419021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs547341337	chr11:101419038-101419039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs113599106	chr11:101419067-101419068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs10633401	chr11:101419070-101419071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs35286986	chr11:101419071-101419072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs7394770	chr11:101419094-101419095	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs528975188	chr11:101419117-101419118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs558553805	chr11:101419154-101419155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs182993167	chr11:101419158-101419159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs548991592	chr11:101419180-101419181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs374273874	chr11:101419189-101419190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs368441529	chr11:101419202-101419203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs200108007	chr11:101419203-101419204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs201075265	chr11:101419205-101419206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs7945348	chr11:101419207-101419208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs66673844	chr11:101419208-101419209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs200084992	chr11:101419218-101419219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs4754773	chr11:101419225-101419226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs10895138	chr11:101419319-101419320	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs528810137	chr11:101419332-101419333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs75884666	chr11:101419337-101419338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs75033659	chr11:101419413-101419414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs80119747	chr11:101419415-101419416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs76470440	chr11:101419477-101419478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs4754774	chr11:101419488-101419489	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs141489473	chr11:101419556-101419557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs201172416	chr11:101419747-101419748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs5794112	chr11:101419749-101419750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs115059073	chr11:101419750-101419751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Melanoma	22183965	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
Myelofibrosis	22110671	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
Mantle cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD
Intracranial aneurysm	16715129	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal cancer	21851588	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:101401200-101425800	Weak transcription	Ovary	ovary
2	chr11:101416400-101437400	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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