Variant report

Variant	nsv442231
Chromosome Location	chr11:57644810-57649246
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:57645397..57647876-chr11:57648363..57651277,2	K562	blood:
2	chr11:57646327..57648164-chr11:57649777..57651399,3	K562	blood:
3	chr11:57645397..57647876-chr11:57648363..57651277,2	K562	blood:

Extended variants
information (count: 78 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:78 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs587730	chr11:57644839-57644840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs575840684	chr11:57644860-57644861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs73482801	chr11:57644924-57644925	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs371290691	chr11:57644943-57644944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs558048930	chr11:57644954-57644955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs60022518	chr11:57644983-57644984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs181817366	chr11:57645027-57645028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs539906776	chr11:57645084-57645085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs368301207	chr11:57645097-57645098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs186534266	chr11:57645108-57645109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs138486861	chr11:57645127-57645128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs528813367	chr11:57645134-57645135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs543795255	chr11:57645137-57645138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs562190715	chr11:57645264-57645265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs191348633	chr11:57645281-57645282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs551688275	chr11:57645282-57645283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs182696861	chr11:57645314-57645315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs563059094	chr11:57645335-57645336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs185130722	chr11:57645346-57645347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs143962568	chr11:57645389-57645390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs528022941	chr11:57645464-57645465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs147326557	chr11:57645466-57645467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs372054323	chr11:57645656-57645657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs138922668	chr11:57645668-57645669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs557390316	chr11:57645688-57645689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs189597479	chr11:57645699-57645700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs539731556	chr11:57645753-57645754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs183262531	chr11:57645769-57645770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs71484469	chr11:57645841-57645842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs573329192	chr11:57645869-57645870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs574257070	chr11:57645894-57645895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs149470079	chr11:57645909-57645910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs555005233	chr11:57645910-57645911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs573398473	chr11:57645927-57645928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs187570419	chr11:57645937-57645938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs368490480	chr11:57645941-57645942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs73484704	chr11:57645950-57645951	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs544944072	chr11:57645961-57645962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs560397680	chr11:57646042-57646043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs539650683	chr11:57646050-57646051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs652579	chr11:57646058-57646059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs556251245	chr11:57646064-57646065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs527440297	chr11:57646089-57646090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs549191252	chr11:57646097-57646098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs374810579	chr11:57646098-57646099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs529387310	chr11:57646118-57646119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs551131898	chr11:57646131-57646132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs12274060	chr11:57648495-57648496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs527637085	chr11:57648521-57648522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs542600676	chr11:57648534-57648535	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Glioblastoma multiforme	21138945	CNVD
Esophageal cancer	21851588	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16272173	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Pituitary adenoma	18645599	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Autism	22495309	CNVD
Autism	20808228	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57641200-57646200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:57648400-57650000	Enhancers	Lung	lung
3	chr11:57649000-57649800	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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