Variant report

Variant	nsv553304
Chromosome Location	chr11:5761164-5762849
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:43 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12291965	chr11:5761164-5761165	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs12800197	chr11:5761219-5761220	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs532949495	chr11:5761304-5761305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs72878687	chr11:5761322-5761323	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs12273853	chr11:5761326-5761327	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs527541164	chr11:5761334-5761335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs548977690	chr11:5761400-5761401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs11038899	chr11:5761466-5761467	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs140012648	chr11:5761493-5761494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs551084440	chr11:5761576-5761577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs567608652	chr11:5761580-5761581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs145329794	chr11:5761612-5761613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs569513993	chr11:5761619-5761620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs540034715	chr11:5761620-5761621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs558337356	chr11:5761676-5761677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs191819751	chr11:5761723-5761724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs534195660	chr11:5761788-5761789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs76095649	chr11:5761797-5761798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs573931999	chr11:5761801-5761802	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs544730141	chr11:5761815-5761816	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs117050336	chr11:5761819-5761820	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs550072974	chr11:5761820-5761821	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs544810696	chr11:5761826-5761827	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs559881981	chr11:5761834-5761835	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs527603623	chr11:5761848-5761849	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs542534011	chr11:5761869-5761870	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs570215887	chr11:5761907-5761908	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs883984	chr11:5762019-5762020	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs883985	chr11:5762027-5762028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs571369035	chr11:5762059-5762060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs532207562	chr11:5762133-5762134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs572110946	chr11:5762161-5762162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs7482619	chr11:5762209-5762210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs183231044	chr11:5762270-5762271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs534538343	chr11:5762272-5762273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs565631095	chr11:5762300-5762301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs555774096	chr11:5762310-5762311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs567696619	chr11:5762324-5762325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs537851209	chr11:5762368-5762369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs883983	chr11:5762389-5762390	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs188730013	chr11:5762607-5762608	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs191571489	chr11:5762677-5762678	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs7482762	chr11:5762782-5762783	Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:67)

Disease	PMID	Source
Neuroblastoma	18923191	CNVD
Breast cancer	19432969	CNVD
Alzheimer''s disease	17576883	CNVD
Long-qt syndrome	17576883	CNVD
Emphysema	19352772	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chordoma	18071362	CNVD
Breast cancer	16608533	CNVD
Cancer	21183584	CNVD
Gastric adenocarcinoma	19115996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	19759907	CNVD
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
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Neuroblastoma	21124317	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Schizophrenia	21399695	CNVD
Gastric cancer	16891809	CNVD
Cancer	17160897	CNVD
Multiple myeloma	16616336	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	23613489	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:5747400-5762400	Weak transcription	Left Ventricle	heart
2	chr11:5761800-5762000	ZNF genes & repeats	Gastric	stomach
3	chr11:5762600-5762800	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived

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