Variant report

Variant	nsv553907
Chromosome Location	chr11:26654581-26670850
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	chr11:26318438..26319350-chr11:26670793..26671982,7	MCF-7	breast:
2	chr11:26669136..26671365-chr14:104584975..104586845,2	MCF-7	breast:

Extended variants
information (count: 658 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:658 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7938949	chr11:26654581-26654582	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs544839583	chr11:26654597-26654598	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs2029713	chr11:26654646-26654647	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs7938755	chr11:26654667-26654668	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs549165690	chr11:26654669-26654670	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs567941045	chr11:26654677-26654678	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs76748253	chr11:26654709-26654710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs538702020	chr11:26654713-26654714	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs528916250	chr11:26654714-26654715	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs190987972	chr11:26654724-26654725	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs547141628	chr11:26654731-26654732	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs565801793	chr11:26654736-26654737	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs377707226	chr11:26654738-26654739	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs539592053	chr11:26654755-26654756	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs557991788	chr11:26654794-26654795	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs183105613	chr11:26654837-26654838	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs572004162	chr11:26654887-26654888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs539304522	chr11:26654898-26654899	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs187398165	chr11:26654906-26654907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs191882233	chr11:26654935-26654936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs7941987	chr11:26654959-26654960	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs555211377	chr11:26654973-26654974	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs567354603	chr11:26655028-26655029	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs7942183	chr11:26655035-26655036	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs35495998	chr11:26655069-26655070	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs568014569	chr11:26655119-26655120	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs79290983	chr11:26655208-26655209	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs553940605	chr11:26655235-26655236	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs572185038	chr11:26655328-26655329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs542801416	chr11:26655337-26655338	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs7942467	chr11:26655344-26655345	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs201356897	chr11:26655448-26655449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs368873468	chr11:26655452-26655453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs71449125	chr11:26655453-26655454	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs565250227	chr11:26655470-26655471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs141038847	chr11:26655494-26655495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs77132774	chr11:26655512-26655513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs7942776	chr11:26655556-26655557	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs192781536	chr11:26655578-26655579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs545934525	chr11:26655580-26655581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs7929519	chr11:26655591-26655592	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs7929611	chr11:26655624-26655625	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs78818093	chr11:26655626-26655627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs369615407	chr11:26655628-26655629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs75607977	chr11:26655641-26655642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs551594415	chr11:26655642-26655643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs56177338	chr11:26655645-26655646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs7943086	chr11:26655658-26655659	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs112846029	chr11:26655674-26655675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs538236553	chr11:26655687-26655688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
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
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
Medulloblastoma	16783165	CNVD
small cell lung cancer	20016488	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Renal cell carcinoma	18194544	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
Chordoma	18071362	CNVD
Autism	22102821	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Neuroticism	17667963	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Ependymoma	20639864	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:26645200-26671600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr11:26654400-26654800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr11:26654400-26655400	Enhancers	GM12878-XiMat	blood
4	chr11:26656200-26656600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr11:26656200-26656600	Enhancers	iPS-20b Cell Line	embryonic stem cell

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