Variant report

Variant	nsv972943
Chromosome Location	chr11:4993946-5001630
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr11:4994751-4994825	HepG2	liver:	n/a	n/a
2	KAT2A	chr11:4994908-4995108	GM12878	blood:	n/a	n/a
3	MAFK	chr11:4997305-4997528	HepG2	liver:	n/a	n/a
4	MYC	chr11:4994445-4994592	MCF10A-Er-Src	breast:	n/a	n/a
5	POLR2A	chr11:4995363-4995415	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	11:4988858-5002113..11:5243048-5250847	Hela-S3	cervix:
2	chr11:4987860..4989604-chr11:4992698..4994558,2	K562	blood:
3	11:4988858-5002113..11:5250847-5268367	Hela-S3	cervix:
4	chr11:4998734..5001673-chr11:5002692..5004874,2	MCF-7	breast:
5	11:4988858-5002113..11:5566274-5571131	Hela-S3	cervix:
6	11:4988858-5002113..11:5469844-5475173	Hela-S3	cervix:
7	11:4988858-5002113..11:5707362-5712027	Hela-S3	cervix:
8	chr11:4990355..4993246-chr11:4998122..4999862,2	K562	blood:
9	11:4988858-5002113..11:5527719-5533869	Hela-S3	cervix:
10	11:4988858-5002113..11:5600743-5604452	Hela-S3	cervix:
11	11:4988858-5002113..11:5700314-5707362	Hela-S3	cervix:
12	11:4789513-4794705..11:4988858-5002113	Hela-S3	cervix:
13	11:4988858-5002113..11:5714465-5718134	Hela-S3	cervix:
14	11:4988858-5002113..11:5505728-5514500	Hela-S3	cervix:
15	11:4940074-4947279..11:4988858-5002113	Hela-S3	cervix:
16	11:4988858-5002113..11:5721056-5732713	Hela-S3	cervix:
17	11:4778081-4789138..11:4988858-5002113	Hela-S3	cervix:

No data

Variant related genes	Relation type
OR51A5P	TF binding region
ENSG00000167346	chromatin interactions
ENSG00000244734	chromatin interactions
ENSG00000175520	chromatin interactions
ENSG00000132256	chromatin interactions
ENSG00000229988	chromatin interactions
ENSG00000221031	chromatin interactions
ENSG00000223609	chromatin interactions
ENSG00000181616	chromatin interactions
ENSG00000132274	chromatin interactions
ENSG00000188069	chromatin interactions
ENSG00000187918	chromatin interactions
ENSG00000181609	chromatin interactions
ENSG00000260629	chromatin interactions
ENSG00000187747	chromatin interactions
ENSG00000176879	chromatin interactions

Extended variants
information (count: 304 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:304 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541910714	chr11:4993953-4993954	Inactive region	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
2	rs560125547	chr11:4993963-4993964	Inactive region	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
3	rs547659092	chr11:4994016-4994017	Inactive region	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
4	rs376539028	chr11:4994019-4994020	Inactive region	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
5	rs142162057	chr11:4994021-4994022	Inactive region	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
6	rs551751764	chr11:4994024-4994025	Inactive region	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
7	rs183302220	chr11:4994076-4994077	Inactive region	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
8	rs143210906	chr11:4994082-4994083	Inactive region	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
9	rs148273835	chr11:4994155-4994156	Inactive region	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
10	rs549503394	chr11:4994159-4994160	Inactive region	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
11	rs141305090	chr11:4994169-4994170	Inactive region	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
12	rs548705315	chr11:4994170-4994171	Inactive region	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
13	rs548560727	chr11:4994278-4994279	Inactive region	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
14	rs111727687	chr11:4994331-4994332	Inactive region	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
15	rs537472476	chr11:4994342-4994343	Inactive region	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
16	rs558978510	chr11:4994357-4994358	Inactive region	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
17	rs187262411	chr11:4994369-4994370	Inactive region	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
18	rs538460203	chr11:4994393-4994394	Inactive region	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
19	rs150301075	chr11:4994411-4994412	Inactive region	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
20	rs569730657	chr11:4994429-4994430	Inactive region	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
21	rs371508110	chr11:4994465-4994466	Inactive region	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
22	rs115909008	chr11:4994513-4994514	Inactive region	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
23	rs118042272	chr11:4994519-4994520	Inactive region	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
24	rs563089273	chr11:4994543-4994544	Inactive region	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
25	rs368519755	chr11:4994612-4994613	Inactive region	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
26	rs574973396	chr11:4994614-4994615	Inactive region	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
27	rs545458678	chr11:4994615-4994616	Inactive region	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
28	rs137868789	chr11:4994637-4994638	Inactive region	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
29	rs528029540	chr11:4994657-4994658	Inactive region	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
30	rs35367467	chr11:4994676-4994677	Inactive region	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
31	rs142484036	chr11:4994680-4994681	Inactive region	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
32	rs192024634	chr11:4994712-4994713	Inactive region	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
33	rs534504879	chr11:4994718-4994719	Inactive region	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
34	rs567285145	chr11:4994744-4994745	Inactive region	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
35	rs145964348	chr11:4994745-4994746	Inactive region	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
36	rs570200834	chr11:4994748-4994749	Inactive region	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
37	rs142768513	chr11:4994761-4994762	Inactive region	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
38	rs553754226	chr11:4994798-4994799	Inactive region	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
39	rs573627011	chr11:4994843-4994844	Inactive region	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
40	rs376097721	chr11:4994845-4994846	Inactive region	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
41	rs552672752	chr11:4994884-4994885	Inactive region	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
42	rs78615879	chr11:4994913-4994914	Inactive region	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
43	rs535953562	chr11:4994952-4994953	Inactive region	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
44	rs183506665	chr11:4994991-4994992	Inactive region	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
45	rs188398083	chr11:4995008-4995009	Inactive region	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
46	rs556255719	chr11:4995045-4995046	Inactive region	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
47	rs568655976	chr11:4995136-4995137	Inactive region	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
48	rs536074615	chr11:4995153-4995154	Inactive region	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
49	rs139726267	chr11:4995203-4995204	Inactive region	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
50	rs575406708	chr11:4995214-4995215	Inactive region	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:5000200-5001000	Enhancers	Fetal Lung	lung
2	chr11:5000400-5001400	Enhancers	Fetal Muscle Leg	muscle
3	chr11:5001000-5004000	Weak transcription	Fetal Lung	lung

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