Variant report

Variant	esv21260
Chromosome Location	chr11:34251608-34253343
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 80 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:80 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559550862	chr11:34251610-34251611	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs61376656	chr11:34251619-34251620	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs541796598	chr11:34251636-34251637	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs375357406	chr11:34251668-34251669	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs147575441	chr11:34251671-34251672	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs2955954	chr11:34251677-34251678	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs562891615	chr11:34251681-34251682	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs564185339	chr11:34251692-34251693	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs533523638	chr11:34251694-34251695	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs2957524	chr11:34251695-34251696	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs567145373	chr11:34251698-34251699	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs57509504	chr11:34251716-34251717	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs548946370	chr11:34251718-34251719	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs568886524	chr11:34251797-34251798	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs537866709	chr11:34251801-34251802	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs142056810	chr11:34251819-34251820	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs2957523	chr11:34251855-34251856	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs537476333	chr11:34251873-34251874	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs12272028	chr11:34251895-34251896	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs552929577	chr11:34251964-34251965	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs555808576	chr11:34251971-34251972	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs1033752	chr11:34251991-34251992	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs551924985	chr11:34251998-34251999	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs75208010	chr11:34252018-34252019	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs188291403	chr11:34252079-34252080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs181812321	chr11:34252080-34252081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs55765110	chr11:34252099-34252100	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs564168873	chr11:34252102-34252103	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs73493591	chr11:34252111-34252112	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs375944573	chr11:34252118-34252119	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs145829748	chr11:34252138-34252139	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs190710218	chr11:34252156-34252157	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs529515126	chr11:34252181-34252182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs80270174	chr11:34252191-34252192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs531458981	chr11:34252229-34252230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs569219912	chr11:34252281-34252282	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs549844349	chr11:34252316-34252317	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs551407592	chr11:34252343-34252344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs571701790	chr11:34252352-34252353	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs368324839	chr11:34252364-34252365	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs2926463	chr11:34252388-34252389	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs535131732	chr11:34252418-34252419	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs181508283	chr11:34252521-34252522	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs535661702	chr11:34252524-34252525	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs2926464	chr11:34252533-34252534	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs138729042	chr11:34252548-34252549	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs186989206	chr11:34252601-34252602	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs538023527	chr11:34252602-34252603	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs2955953	chr11:34252632-34252633	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs79721158	chr11:34252660-34252661	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Thyroid cancer	19087340	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Parathyroid adenoma	22454399	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastric cancer	17908304	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
Medulloblastoma	16783165	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18194544	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Glioblastoma multiforme	22286061	CNVD
Breast cancer	21364760	CNVD
Aniridia syndrome	21572526	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Retinoblastoma	22278416	CNVD
Denys-drash syndrome	21085971	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
WAGR syndrome	16773131	CNVD
Disorders of sex development	22290220	CNVD
Aniridia syndrome	17204608	CNVD
Mental retardation	17204608	CNVD
WAGR syndrome	19617690	CNVD
genitourinary abnormalities	17204608	CNVD
Breast cancer	16397240	CNVD
Mental retardation	16773131	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17160897	CNVD
Cancer	21183584	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
WAGR syndrome	22470819	CNVD
Neurodevelopmental disorder	22521361	CNVD
Denys-drash syndrome	19566914	CNVD
Familial wilms tumor	19566914	CNVD
Frasier syndrome	19566914	CNVD
Non-small cell lung cancer	21829676	CNVD
WAGR syndrome	20603712	CNVD
Autism	17322880	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21858162	CNVD
Cancer	20164920	CNVD
Breast cancer	16620391	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34237200-34255600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr11:34245200-34254600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr11:34245200-34255400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr11:34245200-34255600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr11:34245200-34255800	Weak transcription	HSMMtube	muscle
6	chr11:34245200-34263800	Weak transcription	Right Atrium	heart
7	chr11:34245200-34264200	Weak transcription	Aorta	Aorta
8	chr11:34245400-34254600	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr11:34245400-34255600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr11:34245400-34255600	Weak transcription	NHLF	lung
11	chr11:34245600-34263600	Weak transcription	Right Ventricle	heart
12	chr11:34246200-34255600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr11:34246800-34255800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr11:34247000-34254800	Weak transcription	Fetal Intestine Small	intestine
15	chr11:34247000-34255800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr11:34247000-34257400	Weak transcription	Fetal Stomach	stomach
17	chr11:34248200-34254600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr11:34249600-34263600	Weak transcription	Gastric	stomach
19	chr11:34251600-34252000	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr11:34251600-34252000	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr11:34251600-34255400	Enhancers	GM12878-XiMat	blood
22	chr11:34251800-34255400	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr11:34251800-34255600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr11:34252000-34255400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr11:34252000-34255600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr11:34252600-34253800	Enhancers	A549	lung
27	chr11:34252800-34253200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
28	chr11:34253200-34253600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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