Variant report

Variant	nsv975120
Chromosome Location	chr11:84724538-84729502
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 113 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:113 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540466009	chr11:84725637-84725638	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs182006542	chr11:84725647-84725648	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs554779654	chr11:84725648-84725649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs141695324	chr11:84725653-84725654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs543741540	chr11:84725714-84725715	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs564994942	chr11:84725731-84725732	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs186340781	chr11:84725746-84725747	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs540597799	chr11:84725748-84725749	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs2252376	chr11:84725749-84725750	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs191091933	chr11:84725752-84725753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs557145717	chr11:84725795-84725796	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs3907015	chr11:84725828-84725829	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs145059549	chr11:84725864-84725865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs117708290	chr11:84725880-84725881	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs550458053	chr11:84725949-84725950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs571799998	chr11:84725956-84725957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs57374267	chr11:84725986-84725987	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs574154392	chr11:84725992-84725993	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs7127990	chr11:84726075-84726076	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs566058737	chr11:84726117-84726118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs75308761	chr11:84726126-84726127	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs113612383	chr11:84726169-84726170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs138848501	chr11:84726178-84726179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs141979102	chr11:84726199-84726200	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs536802305	chr11:84726224-84726225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs58702484	chr11:84726238-84726239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs558837790	chr11:84726250-84726251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs545679526	chr11:84726271-84726272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs576693833	chr11:84726295-84726296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs146295718	chr11:84726297-84726298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs560577059	chr11:84726301-84726302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs564462498	chr11:84726311-84726312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs558950564	chr11:84726318-84726319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs574089995	chr11:84726336-84726337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs541562479	chr11:84726385-84726386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs11234266	chr11:84726447-84726448	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs374784408	chr11:84726453-84726454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs61909115	chr11:84726454-84726455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs369188137	chr11:84726457-84726458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs553168658	chr11:84726458-84726459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs549128375	chr11:84726476-84726477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs80008028	chr11:84726494-84726495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs181472524	chr11:84726576-84726577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs17147901	chr11:84726581-84726582	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs72957781	chr11:84726629-84726630	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs548108536	chr11:84726659-84726660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs142005017	chr11:84726750-84726751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs150679708	chr11:84726757-84726758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs139887837	chr11:84726762-84726763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs144785056	chr11:84726785-84726786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	20729466	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
Acute lymphoblastic leukemia	20435627	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Cervical cancer	21062161	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17157792	CNVD
Esophageal squamous carcinoma	18350619	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neuroblastoma	18923191	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	22429812	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Ovarian neoplasms	16753589	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	20844748	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Colorectal cancer	16912164	CNVD
Mental retardation	17847001	CNVD
Melanoma	19509136	CNVD
Sudden cardiac death	19188705	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16785998	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Cancer	20164920	CNVD
Obesity	20622171	CNVD
Breast cancer	22522925	CNVD
Developmental delay	21147756	CNVD
Bipolar disorder	19114987	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Ductal carcinoma	22052326	CNVD
Breast cancer	17142309	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:84725600-84726200	Enhancers	Fetal Heart	heart
2	chr11:84725800-84726200	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr11:84726200-84727400	Weak transcription	Fetal Heart	heart
4	chr11:84727400-84728400	Enhancers	Fetal Heart	heart

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