Variant report

Variant	esv3404053
Chromosome Location	chr11:106775342-106779540
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	chr11:106770027..106773007-chr11:106773541..106775762,2	K562	blood:
2	chr11:106767415..106770075-chr11:106776264..106779232,2	K562	blood:

Extended variants
information (count: 61 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:61 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190872875	chr11:106775376-106775377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs149779302	chr11:106775389-106775390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs374062845	chr11:106775393-106775394	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs183141660	chr11:106775394-106775395	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs146811039	chr11:106775430-106775431	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs572743613	chr11:106775467-106775468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs140618438	chr11:106775484-106775485	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs543493159	chr11:106775493-106775494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs563380274	chr11:106775554-106775555	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs144745232	chr11:106775560-106775561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs576897352	chr11:106775585-106775586	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs544003130	chr11:106775587-106775588	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs367955277	chr11:106775666-106775667	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs12364559	chr11:106775667-106775668	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs532869759	chr11:106775683-106775684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs545029999	chr11:106775715-106775716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs559890990	chr11:106775745-106775746	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs146726077	chr11:106775777-106775778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs12364578	chr11:106775794-106775795	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs545370190	chr11:106775807-106775808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs187053225	chr11:106775852-106775853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs33916298	chr11:106775853-106775854	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs374776468	chr11:106775855-106775856	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs11211968	chr11:106775861-106775862	Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
25	rs538751668	chr11:106775862-106775863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs561500356	chr11:106775899-106775900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs527435893	chr11:106775983-106775984	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs565948196	chr11:106776020-106776021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs10890622	chr11:106776036-106776037	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs549855676	chr11:106776046-106776047	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs569860876	chr11:106776056-106776057	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs576786619	chr11:106776129-106776130	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs544064513	chr11:106776132-106776133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs532515015	chr11:106776148-106776149	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs558874954	chr11:106776177-106776178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs577714696	chr11:106776228-106776229	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs544780256	chr11:106776245-106776246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs560154057	chr11:106776248-106776249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs552322566	chr11:106776291-106776292	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs111381897	chr11:106776301-106776302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs571962825	chr11:106776306-106776307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs190325771	chr11:106776307-106776308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs560880133	chr11:106776319-106776320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs374149066	chr11:106776380-106776381	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs566080597	chr11:106776388-106776389	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs531489459	chr11:106776397-106776398	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs549609881	chr11:106776414-106776415	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs564932832	chr11:106776415-106776416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs532291415	chr11:106776463-106776464	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs368364904	chr11:106776524-106776525	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
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
Prostate cancer	18632612	CNVD
Obesity	19966786	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:106774000-106776800	Enhancers	Fetal Heart	heart

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