Variant report

Variant	esv16753
Chromosome Location	chr11:58594529-58596021
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:60 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531781727	chr11:58594551-58594552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs148311675	chr11:58594579-58594580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs542655057	chr11:58594615-58594616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs565056500	chr11:58594630-58594631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs532195461	chr11:58594645-58594646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs547216513	chr11:58594649-58594650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs565625133	chr11:58594663-58594664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs201478667	chr11:58594820-58594821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs530650196	chr11:58594859-58594860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs536187627	chr11:58594923-58594924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs548165533	chr11:58594963-58594964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs569554260	chr11:58594971-58594972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs183706335	chr11:58595020-58595021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs34366794	chr11:58595074-58595075	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs578197950	chr11:58595135-58595136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs539217561	chr11:58595136-58595137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs12418392	chr11:58595143-58595144	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs10896843	chr11:58595206-58595207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs542951449	chr11:58595266-58595267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs565281644	chr11:58595267-58595268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs534288321	chr11:58595268-58595269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs561294744	chr11:58595277-58595278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs149620392	chr11:58595280-58595281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs543869136	chr11:58595281-58595282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs565016023	chr11:58595291-58595292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs532505749	chr11:58595292-58595293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs78866125	chr11:58595293-58595294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs201030507	chr11:58595294-58595295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs559170683	chr11:58595312-58595313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs529891266	chr11:58595325-58595326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs539015252	chr11:58595334-58595335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs188343724	chr11:58595340-58595341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs181118255	chr11:58595341-58595342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs10896844	chr11:58595384-58595385	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs552180316	chr11:58595429-58595430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs184891598	chr11:58595492-58595493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs534755227	chr11:58595507-58595508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs189776768	chr11:58595530-58595531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs181786362	chr11:58595531-58595532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs566283108	chr11:58595533-58595534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs536916809	chr11:58595545-58595546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs554985657	chr11:58595558-58595559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs576701218	chr11:58595625-58595626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs137941623	chr11:58595659-58595660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs558570361	chr11:58595678-58595679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs576923845	chr11:58595716-58595717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs11229648	chr11:58595718-58595719	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs559082314	chr11:58595719-58595720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs186908436	chr11:58595720-58595721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs529866255	chr11:58595742-58595743	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:3 , 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
3	chr11:58595600-58598600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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