Variant report

Variant	esv2520318
Chromosome Location	chr11:105722956-105724455
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:60 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370483996	chr11:105723001-105723002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs372784635	chr11:105723009-105723010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs376277358	chr11:105723070-105723071	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs539567283	chr11:105723084-105723085	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs181188757	chr11:105723124-105723125	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs566731251	chr11:105723136-105723137	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs112180207	chr11:105723159-105723160	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs562574155	chr11:105723189-105723190	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs531321857	chr11:105723203-105723204	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs112922478	chr11:105723212-105723213	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs1939146	chr11:105723271-105723272	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs552772256	chr11:105723282-105723283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs185185389	chr11:105723307-105723308	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs188087458	chr11:105723318-105723319	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs180735736	chr11:105723337-105723338	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs545932075	chr11:105723350-105723351	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs564131726	chr11:105723352-105723353	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs564537039	chr11:105723391-105723392	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs573080133	chr11:105723427-105723428	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs187503024	chr11:105723450-105723451	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs191790455	chr11:105723458-105723459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs529162363	chr11:105723459-105723460	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs144621034	chr11:105723517-105723518	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs17104671	chr11:105723543-105723544	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs181966672	chr11:105723557-105723558	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs147869917	chr11:105723600-105723601	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs148590657	chr11:105723690-105723691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs574888463	chr11:105723729-105723730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs377491112	chr11:105723754-105723755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs11226866	chr11:105723764-105723765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs372040569	chr11:105723823-105723824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs115265685	chr11:105723825-105723826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs114311066	chr11:105723876-105723877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs567893113	chr11:105723890-105723891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs538555938	chr11:105723943-105723944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs74814651	chr11:105724000-105724001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs370322646	chr11:105724111-105724112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs575323586	chr11:105724127-105724128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs374286762	chr11:105724137-105724138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs557925483	chr11:105724141-105724142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs547276867	chr11:105724144-105724145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs572956387	chr11:105724167-105724168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs540079566	chr11:105724180-105724181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs535547516	chr11:105724265-105724266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs142967867	chr11:105724280-105724281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs573720071	chr11:105724281-105724282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs112502870	chr11:105724289-105724290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs368123528	chr11:105724292-105724293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs72991087	chr11:105724294-105724295	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs533199322	chr11:105724323-105724324	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
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
Cancer	20164919	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:105705200-105764600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr11:105716200-105728400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr11:105716400-105728000	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr11:105723000-105723600	Enhancers	Fetal Lung	lung

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