Variant report

Variant	nsv555104
Chromosome Location	chr11:58593748-58595384
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 66 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:66 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1943276	chr11:58593748-58593749	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs562981060	chr11:58593752-58593753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs533674146	chr11:58593782-58593783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs371510885	chr11:58593806-58593807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs560480941	chr11:58593848-58593849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs193159802	chr11:58593872-58593873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs549424717	chr11:58593876-58593877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs567731565	chr11:58593907-58593908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs369303742	chr11:58593908-58593909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs200052228	chr11:58593910-58593911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs80184726	chr11:58593911-58593912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs531750728	chr11:58593917-58593918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs549942682	chr11:58593929-58593930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs145424476	chr11:58594003-58594004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs77313184	chr11:58594049-58594050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs543913631	chr11:58594055-58594056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs185359239	chr11:58594074-58594075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs565307110	chr11:58594081-58594082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs113645762	chr11:58594134-58594135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs554304078	chr11:58594157-58594158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs140340861	chr11:58594189-58594190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs114785255	chr11:58594192-58594193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs576078495	chr11:58594194-58594195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs189021818	chr11:58594229-58594230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs556674542	chr11:58594230-58594231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs192624344	chr11:58594232-58594233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs147698834	chr11:58594266-58594267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs142323626	chr11:58594276-58594277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs369514095	chr11:58594338-58594339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs543031579	chr11:58594426-58594427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs4385915	chr11:58594456-58594457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs146368054	chr11:58594521-58594522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs531781727	chr11:58594551-58594552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs148311675	chr11:58594579-58594580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs542655057	chr11:58594615-58594616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs565056500	chr11:58594630-58594631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs532195461	chr11:58594645-58594646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs547216513	chr11:58594649-58594650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs565625133	chr11:58594663-58594664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs201478667	chr11:58594820-58594821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs530650196	chr11:58594859-58594860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs536187627	chr11:58594923-58594924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs548165533	chr11:58594963-58594964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs569554260	chr11:58594971-58594972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs183706335	chr11:58595020-58595021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs34366794	chr11:58595074-58595075	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs578197950	chr11:58595135-58595136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs539217561	chr11:58595136-58595137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs12418392	chr11:58595143-58595144	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs10896843	chr11:58595206-58595207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	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
Acute lymphoblastic leukemia	20435627	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	20164919	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:58593000-58596600	Weak transcription	HMEC	breast
2	chr11:58593200-58596600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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