Variant report

Variant	nsv983047
Chromosome Location	chr11:83687828-83689052
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:39 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542000348	chr11:83687837-83687838	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs140194558	chr11:83687844-83687845	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs143920652	chr11:83687850-83687851	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs557977300	chr11:83687852-83687853	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs35863755	chr11:83687863-83687864	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs12289688	chr11:83687873-83687874	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs184734437	chr11:83687908-83687909	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs12808113	chr11:83687910-83687911	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs12808131	chr11:83687941-83687942	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs546061780	chr11:83687992-83687993	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs561948429	chr11:83688053-83688054	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs529168156	chr11:83688106-83688107	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs376854922	chr11:83688110-83688111	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs556300029	chr11:83688140-83688141	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs369060474	chr11:83688256-83688257	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs531717001	chr11:83688276-83688277	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs556251900	chr11:83688292-83688293	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs541999695	chr11:83688307-83688308	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs188622054	chr11:83688320-83688321	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs116109713	chr11:83688377-83688378	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs552383614	chr11:83688396-83688397	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs112919431	chr11:83688418-83688419	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs2514147	chr11:83688582-83688583	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs534685054	chr11:83688623-83688624	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs553363763	chr11:83688624-83688625	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs150023387	chr11:83688719-83688720	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs180670915	chr11:83688751-83688752	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs183601670	chr11:83688776-83688777	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs575390794	chr11:83688787-83688788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs71465583	chr11:83688881-83688882	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs557547854	chr11:83688882-83688883	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs572929143	chr11:83688897-83688898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs539967985	chr11:83688927-83688928	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs527744322	chr11:83688934-83688935	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs188348158	chr11:83688943-83688944	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs547628387	chr11:83688982-83688983	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs570631623	chr11:83689022-83689023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs562813355	chr11:83689043-83689044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs532981283	chr11:83689050-83689051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Developmental delay	21147756	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:83683800-83692000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr11:83684000-83690400	Weak transcription	Brain Hippocampus Middle	brain
3	chr11:83684000-83690600	Weak transcription	Brain Substantia Nigra	brain
4	chr11:83686400-83688600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr11:83686800-83688400	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr11:83686800-83688600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr11:83687000-83688400	Enhancers	Brain Anterior Caudate	brain
8	chr11:83687400-83690600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr11:83687600-83690600	Weak transcription	Brain Cingulate Gyrus	brain
10	chr11:83687600-83690600	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr11:83687600-83693000	Weak transcription	Brain Angular Gyrus	brain
12	chr11:83688400-83689000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr11:83688400-83692000	Weak transcription	Brain Anterior Caudate	brain
14	chr11:83688600-83689800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr11:83688600-83690400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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