Variant report

Variant	nsv972000
Chromosome Location	chr11:33258598-33263953
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	chr11:33259958..33264856-chr11:33277733..33283144,7	MCF-7	breast:
2	chr11:33262756..33265436-chr11:33277701..33280558,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000110422	chromatin interactions

Extended variants
information (count: 195 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:195 , 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	rs538126011	chr11:33258615-33258616	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs534899453	chr11:33258702-33258703	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs183007244	chr11:33258708-33258709	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs534423817	chr11:33258721-33258722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs146575238	chr11:33258816-33258817	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs371890809	chr11:33258835-33258836	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs187712548	chr11:33258899-33258900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs577674875	chr11:33258901-33258902	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs35976195	chr11:33258908-33258909	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs141298449	chr11:33258933-33258934	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs555402086	chr11:33258948-33258949	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs74449716	chr11:33258959-33258960	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs144691420	chr11:33258983-33258984	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs267427	chr11:33258991-33258992	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs549536077	chr11:33259037-33259038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs6484652	chr11:33259100-33259101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs182467935	chr11:33259101-33259102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs146852055	chr11:33259115-33259116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs538644996	chr11:33259200-33259201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs187799170	chr11:33259279-33259280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs563873704	chr11:33259375-33259376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs529343332	chr11:33259377-33259378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs549093348	chr11:33259378-33259379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs568894645	chr11:33259394-33259395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs140680330	chr11:33259433-33259434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs551756881	chr11:33259544-33259545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs150479302	chr11:33259589-33259590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs534088684	chr11:33259599-33259600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs554337722	chr11:33259604-33259605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs567908297	chr11:33259631-33259632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs535523739	chr11:33259639-33259640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs555536776	chr11:33259643-33259644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs575279545	chr11:33259664-33259665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs544218065	chr11:33259672-33259673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs557721226	chr11:33259686-33259687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs192617521	chr11:33259712-33259713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs527266676	chr11:33259719-33259720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs138350571	chr11:33259741-33259742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs542397020	chr11:33259752-33259753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs562291198	chr11:33259778-33259779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs567804082	chr11:33259789-33259790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs1969748	chr11:33259814-33259815	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs1969747	chr11:33259834-33259835	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs184395423	chr11:33259857-33259858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs267426	chr11:33259901-33259902	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs531557601	chr11:33259902-33259903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs80020185	chr11:33259909-33259910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs565178077	chr11:33259922-33259923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs190007354	chr11:33259934-33259935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs192837867	chr11:33259953-33259954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
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
Renal cell carcinoma	18194544	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21364760	CNVD
Glioblastoma multiforme	22286061	CNVD
Aniridia syndrome	21572526	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Retinoblastoma	22278416	CNVD
Denys-drash syndrome	21085971	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
WAGR syndrome	16773131	CNVD
Disorders of sex development	22290220	CNVD
Aniridia syndrome	17204608	CNVD
Mental retardation	17204608	CNVD
WAGR syndrome	19617690	CNVD
genitourinary abnormalities	17204608	CNVD
Breast cancer	16397240	CNVD
Mental retardation	16773131	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17160897	CNVD
Cancer	21183584	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
WAGR syndrome	22470819	CNVD
Neurodevelopmental disorder	22521361	CNVD
Denys-drash syndrome	19566914	CNVD
Familial wilms tumor	19566914	CNVD
Frasier syndrome	19566914	CNVD
Non-small cell lung cancer	21829676	CNVD
WAGR syndrome	20603712	CNVD
Autism	17322880	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21858162	CNVD
Cancer	20164920	CNVD
Breast cancer	16620391	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:33257600-33258800	Weak transcription	Primary monocytes fromperipheralblood	blood
2	chr11:33258400-33259000	Enhancers	Adipose Nuclei	Adipose
3	chr11:33258600-33258800	Enhancers	Brain Substantia Nigra	brain
4	chr11:33258800-33259000	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr11:33259000-33263600	Weak transcription	Adipose Nuclei	Adipose
6	chr11:33262800-33263200	Enhancers	HMEC	breast
7	chr11:33262800-33263600	Enhancers	Hela-S3	cervix
8	chr11:33263000-33263200	Enhancers	Stomach Mucosa	stomach
9	chr11:33263000-33263200	Enhancers	A549	lung
10	chr11:33263000-33263400	Enhancers	NHEK	skin
11	chr11:33263200-33264600	Weak transcription	Stomach Mucosa	stomach
12	chr11:33263400-33263800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr11:33263600-33264000	Enhancers	Adipose Nuclei	Adipose
14	chr11:33263800-33264400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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