Variant report

Variant	esv3419982
Chromosome Location	chr11:104661692-104662990
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 64 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:64 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4628643	chr11:104661709-104661710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs530015040	chr11:104661723-104661724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs546622227	chr11:104661733-104661734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs73622731	chr11:104661779-104661780	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs187819000	chr11:104661793-104661794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs551929224	chr11:104661830-104661831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs528571145	chr11:104661831-104661832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs139965223	chr11:104661849-104661850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs192528144	chr11:104661853-104661854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs12808709	chr11:104661912-104661913	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs67978724	chr11:104661987-104661988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs74200348	chr11:104661988-104661989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs71037266	chr11:104662011-104662012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs142641181	chr11:104662020-104662021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs201358551	chr11:104662021-104662022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs67547653	chr11:104662022-104662023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs200663408	chr11:104662023-104662024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs201368431	chr11:104662024-104662025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs71037267	chr11:104662059-104662060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs567674736	chr11:104662060-104662061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs147654829	chr11:104662078-104662079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs376700711	chr11:104662084-104662085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs377245489	chr11:104662089-104662090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs201394645	chr11:104662117-104662118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs556376616	chr11:104662136-104662137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs200584732	chr11:104662141-104662142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs34939520	chr11:104662152-104662153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs553574336	chr11:104662171-104662172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs11226500	chr11:104662181-104662182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs568746109	chr11:104662203-104662204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs536176335	chr11:104662231-104662232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs12795340	chr11:104662232-104662233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs557355309	chr11:104662233-104662234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs369785595	chr11:104662244-104662245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs373422840	chr11:104662245-104662246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs375840992	chr11:104662246-104662247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs189005893	chr11:104662249-104662250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs181656153	chr11:104662258-104662259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs185209047	chr11:104662259-104662260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs575716536	chr11:104662269-104662270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs71037268	chr11:104662282-104662283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs200019882	chr11:104662294-104662295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs375677428	chr11:104662295-104662296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs199794863	chr11:104662299-104662300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs189790944	chr11:104662311-104662312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs35548110	chr11:104662316-104662317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs139993876	chr11:104662341-104662342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs540037991	chr11:104662353-104662354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs573573237	chr11:104662389-104662390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs149842203	chr11:104662412-104662413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

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
Tetralogy of Fallot	22912587	CNVD
Prostate cancer	18632612	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:104655800-104668600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr11:104662600-104663200	Enhancers	Fetal Intestine Small	intestine
3	chr11:104662600-104664400	Enhancers	Fetal Heart	heart
4	chr11:104662800-104663600	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr11:104662800-104663800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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