Variant report

Variant	nsv898024
Chromosome Location	chr11:83576460-83602367
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	chr11:83571260..83574141-chr11:83577479..83579450,2	K562	blood:
2	chr11:83571091..83572760-chr11:83577479..83580150,2	K562	blood:

Extended variants
information (count: 1230 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:1230 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12363937	chr11:83576460-83576461	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs374340371	chr11:83576489-83576490	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs377497259	chr11:83576499-83576500	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs58307015	chr11:83576500-83576501	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs113607732	chr11:83576502-83576503	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs79316238	chr11:83576503-83576504	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs397779096	chr11:83576510-83576511	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs564081039	chr11:83576566-83576567	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs79160449	chr11:83576631-83576632	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs556153365	chr11:83576643-83576644	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs145619395	chr11:83576667-83576668	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs138483664	chr11:83576684-83576685	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs554123708	chr11:83576742-83576743	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs143010061	chr11:83576772-83576773	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs571097226	chr11:83576774-83576775	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs542784927	chr11:83576838-83576839	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs560970794	chr11:83576867-83576868	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs189694369	chr11:83576874-83576875	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs145135537	chr11:83576929-83576930	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs562495209	chr11:83576951-83576952	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs3793952	chr11:83577000-83577001	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs114063669	chr11:83577012-83577013	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs567141443	chr11:83577021-83577022	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs558865726	chr11:83577036-83577037	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs528005178	chr11:83577046-83577047	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs549554167	chr11:83577065-83577066	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs78539920	chr11:83577091-83577092	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs200828752	chr11:83577114-83577115	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs34996514	chr11:83577115-83577116	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs550380751	chr11:83577120-83577121	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs537890482	chr11:83577121-83577122	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs377088313	chr11:83577129-83577130	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs571227607	chr11:83577151-83577152	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs180780245	chr11:83577198-83577199	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs538622618	chr11:83577232-83577233	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs553829967	chr11:83577233-83577234	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs569736528	chr11:83577247-83577248	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs3793953	chr11:83577310-83577311	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs3793954	chr11:83577334-83577335	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs554709952	chr11:83577361-83577362	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs186023793	chr11:83577379-83577380	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs544272648	chr11:83577412-83577413	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs562660220	chr11:83577446-83577447	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs138960236	chr11:83577455-83577456	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs190484735	chr11:83577460-83577461	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs560333934	chr11:83577483-83577484	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs77278829	chr11:83577484-83577485	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs577276372	chr11:83577499-83577500	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs74319714	chr11:83577502-83577503	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs181940152	chr11:83577515-83577516	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:50 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:83567000-83576600	Weak transcription	Brain Angular Gyrus	brain
2	chr11:83573200-83577400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr11:83574200-83576600	Weak transcription	Brain Cingulate Gyrus	brain
4	chr11:83574200-83576800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr11:83574400-83577000	Weak transcription	Brain Anterior Caudate	brain
6	chr11:83574400-83577200	Enhancers	Stomach Smooth Muscle	stomach
7	chr11:83574600-83577600	Enhancers	HMEC	breast
8	chr11:83575000-83576800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr11:83575200-83576600	Weak transcription	Brain Substantia Nigra	brain
10	chr11:83575200-83577400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr11:83575600-83576800	Weak transcription	Brain Hippocampus Middle	brain
12	chr11:83575600-83577600	Enhancers	NHEK	skin
13	chr11:83575800-83576800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr11:83576000-83577400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr11:83576000-83577400	Enhancers	NH-A	brain
16	chr11:83576000-83586400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr11:83576200-83577400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr11:83576200-83577400	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr11:83576400-83577200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr11:83576600-83577000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr11:83576600-83577200	Enhancers	Brain Angular Gyrus	brain
22	chr11:83576600-83577400	Enhancers	Brain Cingulate Gyrus	brain
23	chr11:83576600-83578000	Enhancers	Brain Substantia Nigra	brain
24	chr11:83576800-83577200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr11:83576800-83577200	Enhancers	Brain Hippocampus Middle	brain
26	chr11:83576800-83577200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
27	chr11:83576800-83577600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr11:83577000-83577400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr11:83577000-83577400	Enhancers	Muscle Satellite Cultured Cells	--
30	chr11:83577000-83577800	Enhancers	Brain Anterior Caudate	brain
31	chr11:83577200-83577400	Enhancers	Pancreatic Islets	Pancreatic Islet
32	chr11:83577200-83584400	Weak transcription	Brain Angular Gyrus	brain
33	chr11:83577200-83584400	Weak transcription	Brain Hippocampus Middle	brain
34	chr11:83577400-83584600	Weak transcription	Brain Cingulate Gyrus	brain
35	chr11:83577400-83606800	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr11:83577800-83584400	Weak transcription	Brain Anterior Caudate	brain
37	chr11:83578000-83606800	Weak transcription	Brain Substantia Nigra	brain
38	chr11:83581600-83582600	Enhancers	HepG2	liver
39	chr11:83582800-83585400	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr11:83584400-83585200	Strong transcription	Brain Angular Gyrus	brain
41	chr11:83584400-83585200	Strong transcription	Brain Anterior Caudate	brain
42	chr11:83584400-83585200	Strong transcription	Brain Hippocampus Middle	brain
43	chr11:83584600-83585200	Strong transcription	Brain Cingulate Gyrus	brain
44	chr11:83585200-83586800	Weak transcription	Brain Angular Gyrus	brain
45	chr11:83585200-83587000	Weak transcription	Brain Anterior Caudate	brain
46	chr11:83585200-83606600	Weak transcription	Brain Cingulate Gyrus	brain
47	chr11:83585200-83606600	Weak transcription	Brain Hippocampus Middle	brain
48	chr11:83586800-83587200	Enhancers	Brain Angular Gyrus	brain
49	chr11:83587000-83587200	Enhancers	Brain Anterior Caudate	brain
50	chr11:83601800-83603200	Enhancers	Breast Myoepithelial Primary Cells	Breast

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