Variant report

Variant	nsv819271
Chromosome Location	chr11:5343554-5344613
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:5340528..5343655-chr11:5344249..5347268,3	K562	blood:

Variant related genes	Relation type
ENSG00000184881	chromatin interactions

Extended variants
information (count: 59 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:59 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs79570228	chr11:5343556-5343557	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs578016235	chr11:5343571-5343572	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs375796507	chr11:5343597-5343598	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs112771110	chr11:5343628-5343629	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs182213526	chr11:5343665-5343666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs368235606	chr11:5343715-5343716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs78260647	chr11:5343740-5343741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs150167326	chr11:5343745-5343746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs3886223	chr11:5343747-5343748	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs569283484	chr11:5343754-5343755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs374247882	chr11:5343756-5343757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs576448637	chr11:5343771-5343772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs185098904	chr11:5343794-5343795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs138672171	chr11:5343806-5343807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs564925298	chr11:5343807-5343808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs532095106	chr11:5343850-5343851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs547436648	chr11:5343852-5343853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs559206264	chr11:5343872-5343873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs3886220	chr11:5343885-5343886	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs549175348	chr11:5343892-5343893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs567615390	chr11:5343914-5343915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs538173559	chr11:5343919-5343920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs549748856	chr11:5343929-5343930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs3886221	chr11:5343937-5343938	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs538676906	chr11:5343942-5343943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs544657925	chr11:5343987-5343988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs572454897	chr11:5343988-5343989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs78615703	chr11:5343993-5343994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs3886222	chr11:5343995-5343996	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs576385320	chr11:5344006-5344007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs57130373	chr11:5344049-5344050	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs190025691	chr11:5344071-5344072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs114509236	chr11:5344139-5344140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs540673363	chr11:5344144-5344145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs4433594	chr11:5344159-5344160	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs3886224	chr11:5344164-5344165	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs542790818	chr11:5344171-5344172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs538317776	chr11:5344208-5344209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs555015946	chr11:5344209-5344210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs554452343	chr11:5344275-5344276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs556504341	chr11:5344289-5344290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs181248745	chr11:5344290-5344291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs115985846	chr11:5344348-5344349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs377021261	chr11:5344358-5344359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs142514111	chr11:5344359-5344360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs201288623	chr11:5344360-5344361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs78514351	chr11:5344361-5344362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs10538219	chr11:5344364-5344365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs550031199	chr11:5344375-5344376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs7951549	chr11:5344423-5344424	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:61)

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
early-passage human iPS cells	21368824	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:5330400-5345000	Weak transcription	K562	blood

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