Variant report

Variant	nsv975119
Chromosome Location	chr11:83811956-83812901
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs367722747	chr11:83812006-83812007	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs575598905	chr11:83812011-83812012	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs573272163	chr11:83812049-83812050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs35638931	chr11:83812051-83812052	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs566696633	chr11:83812106-83812107	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs534787852	chr11:83812107-83812108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs543384087	chr11:83812159-83812160	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs147258802	chr11:83812171-83812172	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs568223477	chr11:83812186-83812187	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs139695455	chr11:83812249-83812250	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs557345571	chr11:83812350-83812351	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs116096847	chr11:83812425-83812426	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs192336766	chr11:83812426-83812427	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs577057372	chr11:83812488-83812489	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs183899270	chr11:83812494-83812495	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs60861772	chr11:83812495-83812496	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs542538148	chr11:83812574-83812575	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs375207009	chr11:83812581-83812582	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs540834905	chr11:83812592-83812593	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs188742856	chr11:83812615-83812616	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs573798192	chr11:83812785-83812786	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs572200923	chr11:83812800-83812801	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs544200802	chr11:83812868-83812869	Enhancers 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:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:83801400-83813400	Weak transcription	Brain Germinal Matrix	brain
2	chr11:83802600-83812200	Weak transcription	Brain Anterior Caudate	brain
3	chr11:83803000-83812600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr11:83808600-83812200	Weak transcription	Brain Cingulate Gyrus	brain
5	chr11:83808600-83812800	Weak transcription	Brain Substantia Nigra	brain
6	chr11:83810200-83812600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr11:83810400-83812200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr11:83810600-83812200	Weak transcription	Brain Hippocampus Middle	brain
9	chr11:83810600-83812400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr11:83810600-83812600	Weak transcription	Fetal Heart	heart
11	chr11:83811600-83814800	Enhancers	Brain Angular Gyrus	brain
12	chr11:83811600-83814800	Enhancers	Brain Inferior Temporal Lobe	brain
13	chr11:83812200-83812800	Enhancers	Fetal Brain Male	brain
14	chr11:83812200-83814800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr11:83812200-83814800	Enhancers	Brain Anterior Caudate	brain
16	chr11:83812200-83814800	Enhancers	Brain Cingulate Gyrus	brain
17	chr11:83812200-83814800	Enhancers	Brain Hippocampus Middle	brain
18	chr11:83812400-83814800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr11:83812600-83812800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
20	chr11:83812600-83813200	Enhancers	Fetal Heart	heart
21	chr11:83812600-83814600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr11:83812600-83814800	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr11:83812600-83814800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr11:83812800-83813200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr11:83812800-83814600	Enhancers	Brain Substantia Nigra	brain

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