Variant report

Variant	esv3365882
Chromosome Location	chr11:104964705-104966122
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:45 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564749017	chr11:104964788-104964789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs114256547	chr11:104964804-104964805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs182732440	chr11:104964853-104964854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs35920238	chr11:104964861-104964862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs187066745	chr11:104964870-104964871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs529319571	chr11:104964887-104964888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs138614991	chr11:104964898-104964899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs565917297	chr11:104964972-104964973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs534956056	chr11:104965006-104965007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs551380234	chr11:104965036-104965037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs530893543	chr11:104965060-104965061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs571482183	chr11:104965062-104965063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs139129349	chr11:104965160-104965161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs7932543	chr11:104965168-104965169	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs1785879	chr11:104965180-104965181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs1785880	chr11:104965186-104965187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs1699079	chr11:104965192-104965193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs149294925	chr11:104965277-104965278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs570952919	chr11:104965353-104965354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs573810484	chr11:104965354-104965355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs375095838	chr11:104965393-104965394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs144751661	chr11:104965439-104965440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs552975302	chr11:104965483-104965484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs533606002	chr11:104965530-104965531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs12420557	chr11:104965587-104965588	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs544942629	chr11:104965592-104965593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs139599327	chr11:104965623-104965624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs577881225	chr11:104965636-104965637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs377077942	chr11:104965637-104965638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs78346636	chr11:104965650-104965651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs571047866	chr11:104965690-104965691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs529379932	chr11:104965691-104965692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs191060233	chr11:104965729-104965730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs559742268	chr11:104965730-104965731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs183219183	chr11:104965744-104965745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs187752642	chr11:104965784-104965785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs112018026	chr11:104965859-104965860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs537322216	chr11:104965861-104965862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs192712898	chr11:104965893-104965894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs373841696	chr11:104965904-104965905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs565883752	chr11:104965954-104965955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs184937638	chr11:104966035-104966036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs552796591	chr11:104966040-104966041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs566521280	chr11:104966043-104966044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs142832589	chr11:104966093-104966094	Weak transcription	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
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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:104963400-104970200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr11:104964400-104969600	Weak transcription	NHEK	skin
3	chr11:104964400-104971600	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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