Variant report

Variant	nsv976457
Chromosome Location	chr11:58605935-58611812
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	chr11:58599747..58602498-chr11:58604323..58607050,2	K562	blood:

Extended variants
information (count: 232 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:232 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543230304	chr11:58605952-58605953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs564798493	chr11:58605962-58605963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs151033669	chr11:58605969-58605970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs547075790	chr11:58605988-58605989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs559341331	chr11:58606021-58606022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs187451322	chr11:58606022-58606023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs548332192	chr11:58606075-58606076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs569333019	chr11:58606090-58606091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs140041427	chr11:58606105-58606106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs79926959	chr11:58606140-58606141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs550405497	chr11:58606170-58606171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs571799572	chr11:58606184-58606185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs12287295	chr11:58606231-58606232	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs55739408	chr11:58606243-58606244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs572434126	chr11:58606244-58606245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs9943655	chr11:58606273-58606274	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs554611213	chr11:58606283-58606284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs576139169	chr11:58606291-58606292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs543168192	chr11:58606309-58606310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs9943656	chr11:58606312-58606313	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs577053883	chr11:58606329-58606330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs193220188	chr11:58606345-58606346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs185564942	chr11:58606399-58606400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs529663639	chr11:58606491-58606492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs73475773	chr11:58606492-58606493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs143878729	chr11:58606508-58606509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs34029377	chr11:58606514-58606515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs530622415	chr11:58606556-58606557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs78267683	chr11:58606557-58606558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs371625844	chr11:58606570-58606571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs571847776	chr11:58606575-58606576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs556631952	chr11:58606590-58606591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs113216391	chr11:58606643-58606644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs538944868	chr11:58606644-58606645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs548043444	chr11:58606651-58606652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs566261012	chr11:58606779-58606780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs536206106	chr11:58606797-58606798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs554547877	chr11:58606807-58606808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs576125087	chr11:58606897-58606898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs146883971	chr11:58606936-58606937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs369205825	chr11:58606956-58606957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs200111107	chr11:58606977-58606978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs201732956	chr11:58606984-58606985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs201371649	chr11:58606989-58606990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs200448941	chr11:58607021-58607022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs140644520	chr11:58607048-58607049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs17851434	chr11:58607071-58607072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs377076459	chr11:58607084-58607085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs371449712	chr11:58607090-58607091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs372595925	chr11:58607096-58607097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:58605200-58610800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr11:58610400-58611600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr11:58610600-58612600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr11:58610800-58614200	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr11:58610800-58614600	Enhancers	Primary hematopoietic stem cells	blood
6	chr11:58611600-58612400	Enhancers	Brain Anterior Caudate	brain
7	chr11:58611600-58612400	Enhancers	Brain Hippocampus Middle	brain
8	chr11:58611600-58612400	Enhancers	Brain Inferior Temporal Lobe	brain
9	chr11:58611600-58613200	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr11:58611600-58613400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr11:58611800-58613200	Enhancers	Primary monocytes fromperipheralblood	blood

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