Variant report

Variant	nsv975855
Chromosome Location	chr11:83966201-83969181
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	chr11:83966425..83969420-chr11:83971895..83974336,2	K562	blood:
2	chr11:83967920..83969714-chr11:83971819..83973395,2	K562	blood:

Extended variants
information (count: 108 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:108 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141041448	chr11:83966225-83966226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs111461567	chr11:83966230-83966231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs549831107	chr11:83966250-83966251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs571392171	chr11:83966256-83966257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs538676208	chr11:83966276-83966277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs528742398	chr11:83966287-83966288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs145504226	chr11:83966293-83966294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs536507340	chr11:83966343-83966344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs537237612	chr11:83966346-83966347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs80012323	chr11:83966397-83966398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs576525311	chr11:83966398-83966399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs145264436	chr11:83966403-83966404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs564998306	chr11:83966415-83966416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs137855559	chr11:83966421-83966422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs184650803	chr11:83966436-83966437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs559350724	chr11:83966474-83966475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs377572214	chr11:83966523-83966524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs577292573	chr11:83966592-83966593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs541497153	chr11:83966610-83966611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs548155854	chr11:83966618-83966619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs563514544	chr11:83966631-83966632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs530653831	chr11:83966658-83966659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs559525612	chr11:83966667-83966668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs141121140	chr11:83966670-83966671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs190228263	chr11:83966693-83966694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs193257327	chr11:83966710-83966711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs538741416	chr11:83966735-83966736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs143179926	chr11:83966742-83966743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs565891044	chr11:83966768-83966769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs147397622	chr11:83966803-83966804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs185061253	chr11:83966822-83966823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs545051779	chr11:83966885-83966886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs141248222	chr11:83966901-83966902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs537686222	chr11:83966934-83966935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs559184049	chr11:83966966-83966967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs199598555	chr11:83967000-83967001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs80061518	chr11:83967012-83967013	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs4943889	chr11:83967019-83967020	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs552953227	chr11:83967028-83967029	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs79349855	chr11:83967059-83967060	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs150650732	chr11:83967125-83967126	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs188998607	chr11:83967134-83967135	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs5793117	chr11:83967172-83967173	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs530831325	chr11:83967177-83967178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs563931346	chr11:83967245-83967246	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs545633735	chr11:83967279-83967280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs369800171	chr11:83967334-83967335	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs143079776	chr11:83967336-83967337	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs547460297	chr11:83967378-83967379	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs546632167	chr11:83967402-83967403	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
Cancer	20164919	CNVD
Developmental delay	21147756	CNVD
Bipolar disorder	19114987	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:83961800-83967200	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr11:83961800-83969200	Weak transcription	Brain Cingulate Gyrus	brain
3	chr11:83961800-83969600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr11:83961800-83974000	Weak transcription	Brain Anterior Caudate	brain
5	chr11:83962600-83967200	Weak transcription	Brain Substantia Nigra	brain
6	chr11:83965000-83971800	Weak transcription	Brain Angular Gyrus	brain
7	chr11:83966200-83967000	Weak transcription	Brain Hippocampus Middle	brain
8	chr11:83967000-83968200	Enhancers	Brain Hippocampus Middle	brain
9	chr11:83967200-83968200	Enhancers	Brain Inferior Temporal Lobe	brain
10	chr11:83967200-83968200	Enhancers	Brain Substantia Nigra	brain
11	chr11:83968200-83969800	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr11:83968200-83970000	Weak transcription	Brain Substantia Nigra	brain
13	chr11:83968200-83971800	Weak transcription	Brain Hippocampus Middle	brain

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