Variant report

Variant	nsv553353
Chromosome Location	chr11:6112857-6117526
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 214 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:214 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11511999	chr11:6112857-6112858	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs189697180	chr11:6112878-6112879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs191282627	chr11:6112889-6112890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs139902029	chr11:6112894-6112895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs144693963	chr11:6112948-6112949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs543240880	chr11:6112951-6112952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs561421521	chr11:6112966-6112967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs531823144	chr11:6113002-6113003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs561776769	chr11:6113005-6113006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs550219623	chr11:6113017-6113018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs565261665	chr11:6113049-6113050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs562348263	chr11:6113064-6113065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs547427899	chr11:6113113-6113114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs565632779	chr11:6113117-6113118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs11827516	chr11:6113123-6113124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs548087192	chr11:6113145-6113146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs569796042	chr11:6113212-6113213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs112555970	chr11:6113220-6113221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs554184633	chr11:6113221-6113222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs61378490	chr11:6113231-6113232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs147898171	chr11:6113242-6113243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs558600604	chr11:6113247-6113248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs576902158	chr11:6113273-6113274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs534604314	chr11:6113285-6113286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs569679336	chr11:6113301-6113302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs188107915	chr11:6113303-6113304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs60721507	chr11:6113313-6113314	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs373622844	chr11:6113326-6113327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs7106139	chr11:6113332-6113333	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs141683903	chr11:6113396-6113397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs7106179	chr11:6113425-6113426	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs71467504	chr11:6113437-6113438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs34377332	chr11:6113442-6113443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs397740174	chr11:6113444-6113445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs565370676	chr11:6113449-6113450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs548721436	chr11:6113498-6113499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs59433060	chr11:6113508-6113509	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs7117911	chr11:6113515-6113516	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs574282781	chr11:6113516-6113517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs559279669	chr11:6113531-6113532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs7117092	chr11:6113555-6113556	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs548050223	chr11:6113640-6113641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs147034099	chr11:6113661-6113662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs577760059	chr11:6113746-6113747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs181986850	chr11:6113785-6113786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs537237189	chr11:6113791-6113792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs7117349	chr11:6113816-6113817	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs6578736	chr11:6113830-6113831	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs6578737	chr11:6113842-6113843	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs553114202	chr11:6113877-6113878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
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
T-cell prolymphocytic leukemia	19278963	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:6112800-6117200	Weak transcription	Fetal Heart	heart
2	chr11:6114600-6115200	Enhancers	Monocytes-CD14+_RO01746	blood
3	chr11:6115000-6116000	Enhancers	Primary T cells from cord blood	blood
4	chr11:6115200-6116000	Enhancers	HUVEC	blood vessel
5	chr11:6115200-6116000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
6	chr11:6115200-6116200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr11:6115200-6116800	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr11:6115400-6115800	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr11:6115400-6115800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr11:6116000-6116200	Enhancers	Monocytes-CD14+_RO01746	blood
11	chr11:6116600-6118800	Enhancers	Placenta	Placenta
12	chr11:6117200-6118400	Enhancers	Fetal Heart	heart
13	chr11:6117400-6117600	Enhancers	Fetal Muscle Leg	muscle
14	chr11:6117400-6117800	Bivalent Enhancer	HUVEC	blood vessel
15	chr11:6117400-6118800	Enhancers	Left Ventricle	heart

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