Variant report

Variant	nsv521722
Chromosome Location	chr11:5483825-5487596
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	11:5407716-5412355..11:5482799-5488942	H1-hESC	embryonic stem cell:	embryo
2	11:4778081-4789138..11:5482799-5488942	Hela-S3	cervix:
3	11:5250847-5268367..11:5482799-5488942	Hela-S3	cervix:
4	11:5482799-5488942..11:5566274-5571131	H1-hESC	embryonic stem cell:	embryo
5	chr11:5486174..5488915-chr11:5526268..5527984,3	K562	blood:
6	11:5482799-5488942..11:5533869-5541626	Hela-S3	cervix:
7	11:5482799-5488942..11:5714465-5718134	Hela-S3	cervix:
8	11:5482799-5488942..11:5707362-5712027	H1-hESC	embryonic stem cell:	embryo
9	11:5146608-5154908..11:5482799-5488942	H1-hESC	embryonic stem cell:	embryo
10	chr11:5473913..5477314-chr11:5481378..5484455,3	K562	blood:
11	chr11:5487225..5489832-chr11:5524336..5528064,4	K562	blood:
12	11:5482799-5488942..11:5721056-5732713	Hela-S3	cervix:
13	11:5482799-5488942..11:5700314-5707362	H1-hESC	embryonic stem cell:	embryo
14	11:5482799-5488942..11:5527719-5533869	H1-hESC	embryonic stem cell:	embryo
15	chr11:5486296..5490583-chr11:5492213..5495535,7	K562	blood:

No data

Variant related genes	Relation type
ENSG00000175520	chromatin interactions
ENSG00000187918	chromatin interactions
ENSG00000175518	chromatin interactions
ENSG00000167346	chromatin interactions
ENSG00000229988	chromatin interactions
ENSG00000167355	chromatin interactions
ENSG00000132256	chromatin interactions
ENSG00000223609	chromatin interactions
ENSG00000171944	chromatin interactions
ENSG00000132274	chromatin interactions
ENSG00000184698	chromatin interactions
ENSG00000260629	chromatin interactions
ENSG00000196565	chromatin interactions
ENSG00000181616	chromatin interactions
ENSG00000213931	chromatin interactions

Extended variants
information (count: 200 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:200 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1391617	chr11:5483825-5483826	Strong transcription	Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs186352822	chr11:5483891-5483892	Strong transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
3	rs532527751	chr11:5483925-5483926	Strong transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
4	rs115245029	chr11:5483951-5483952	Strong transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
5	rs567356881	chr11:5483979-5483980	Strong transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
6	rs556772533	chr11:5484056-5484057	Strong transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
7	rs577968732	chr11:5484063-5484064	Strong transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
8	rs75208922	chr11:5484083-5484084	Strong transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
9	rs560112984	chr11:5484101-5484102	Strong transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
10	rs191104460	chr11:5484122-5484123	Strong transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
11	rs12270900	chr11:5484128-5484129	Strong transcription	Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs1498481	chr11:5484136-5484137	Strong transcription	Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs181683687	chr11:5484140-5484141	Strong transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
14	rs549815499	chr11:5484162-5484163	Strong transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
15	rs144442976	chr11:5484228-5484229	Strong transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
16	rs532442561	chr11:5484234-5484235	Strong transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
17	rs148415090	chr11:5484235-5484236	Strong transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
18	rs117931041	chr11:5484241-5484242	Strong transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
19	rs2647595	chr11:5484249-5484250	Strong transcription	Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs369008008	chr11:5484258-5484259	Strong transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
21	rs187098521	chr11:5484274-5484275	Strong transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
22	rs11037569	chr11:5484314-5484315	Strong transcription	Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs7940657	chr11:5484348-5484349	Strong transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
24	rs577661668	chr11:5484381-5484382	Strong transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
25	rs191170204	chr11:5484392-5484393	Strong transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
26	rs183430379	chr11:5484404-5484405	Strong transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
27	rs7950643	chr11:5484452-5484453	Strong transcription	Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs572074398	chr11:5484454-5484455	Strong transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
29	rs72539681	chr11:5484514-5484515	Strong transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
30	rs561391948	chr11:5484515-5484516	Strong transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
31	rs531701932	chr11:5484569-5484570	Strong transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
32	rs187048784	chr11:5484606-5484607	Strong transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
33	rs76790405	chr11:5484631-5484632	Strong transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
34	rs532480605	chr11:5484673-5484674	Strong transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
35	rs574435241	chr11:5484736-5484737	Strong transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
36	rs547677670	chr11:5484748-5484749	Strong transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
37	rs373830512	chr11:5484767-5484768	Strong transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
38	rs189539507	chr11:5484815-5484816	Enhancers Strong transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
39	rs529670315	chr11:5484867-5484868	Enhancers Strong transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
40	rs78333847	chr11:5484877-5484878	Enhancers Strong transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
41	rs569775596	chr11:5484951-5484952	Enhancers Strong transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
42	rs146403646	chr11:5484953-5484954	Enhancers Strong transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
43	rs550379984	chr11:5484984-5484985	Enhancers Strong transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
44	rs79300660	chr11:5485006-5485007	Enhancers Strong transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
45	rs563336646	chr11:5485028-5485029	Enhancers Strong transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
46	rs16926541	chr11:5485033-5485034	Enhancers Strong transcription	Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs372140199	chr11:5485047-5485048	Enhancers Strong transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
48	rs572117903	chr11:5485048-5485049	Enhancers Strong transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
49	rs536285510	chr11:5485052-5485053	Enhancers Strong transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
50	rs113636533	chr11:5485054-5485055	Enhancers Strong transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	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
Pancreatic cancer	17952125	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:5483200-5485400	Strong transcription	K562	blood
2	chr11:5484800-5485400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr11:5485400-5486800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr11:5485400-5487800	Weak transcription	K562	blood

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