Variant report

Variant	nsv1051279
Chromosome Location	chr11:83818647-83872815
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:83814523..83816503-chr11:83818497..83820739,3	MCF-7	breast:
2	chr11:83853767..83856033-chr11:83857027..83859961,2	MCF-7	breast:
3	chr11:83853767..83856033-chr11:83857027..83859961,2	MCF-7	breast:

Extended variants
information (count: 2111 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:2111 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575014509	chr11:83818672-83818673	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs140150824	chr11:83818679-83818680	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs557268053	chr11:83818691-83818692	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs575746317	chr11:83818692-83818693	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs546089330	chr11:83818724-83818725	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs11233905	chr11:83818828-83818829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs191099686	chr11:83818847-83818848	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs572996562	chr11:83818886-83818887	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs540213755	chr11:83818899-83818900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs143795208	chr11:83818922-83818923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs181554828	chr11:83818937-83818938	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs185827891	chr11:83818940-83818941	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs562646301	chr11:83819003-83819004	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs533111908	chr11:83819032-83819033	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs10792719	chr11:83819060-83819061	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs191129036	chr11:83819080-83819081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs534823962	chr11:83819092-83819093	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs546578280	chr11:83819111-83819112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs375830592	chr11:83819138-83819139	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs141168847	chr11:83819207-83819208	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs7925643	chr11:83819219-83819220	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs535483485	chr11:83819260-83819261	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs557592689	chr11:83819300-83819301	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs183208030	chr11:83819302-83819303	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs187922361	chr11:83819314-83819315	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs540011833	chr11:83819338-83819339	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs191188782	chr11:83819355-83819356	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs572960239	chr11:83819383-83819384	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs540371861	chr11:83819407-83819408	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs115899438	chr11:83819468-83819469	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs573536718	chr11:83819496-83819497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs183025325	chr11:83819500-83819501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs530289506	chr11:83819542-83819543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs562771006	chr11:83819548-83819549	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs188766997	chr11:83819585-83819586	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs544787395	chr11:83819605-83819606	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs559953811	chr11:83819626-83819627	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs146703548	chr11:83819629-83819630	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs546641615	chr11:83819685-83819686	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs568471438	chr11:83819692-83819693	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs148846015	chr11:83819712-83819713	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs537663549	chr11:83819718-83819719	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs192653864	chr11:83819734-83819735	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs569512792	chr11:83819781-83819782	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs558899524	chr11:83819791-83819792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs540172274	chr11:83819813-83819814	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs57352603	chr11:83819834-83819835	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs67966840	chr11:83819835-83819836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs558376077	chr11:83819844-83819845	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs143479331	chr11:83819874-83819875	Weak transcription Enhancers	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
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Developmental delay	21147756	CNVD
Bipolar disorder	19114987	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Ependymoma	20639864	CNVD

Chromatin state (count:195 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:83814800-83819800	Weak transcription	Brain Cingulate Gyrus	brain
2	chr11:83816400-83820000	Enhancers	Brain Substantia Nigra	brain
3	chr11:83816600-83829200	Weak transcription	Brain Angular Gyrus	brain
4	chr11:83817000-83819000	Enhancers	Brain Hippocampus Middle	brain
5	chr11:83817400-83818800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr11:83818200-83818800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr11:83819000-83820400	Weak transcription	Brain Hippocampus Middle	brain
8	chr11:83819800-83820200	Enhancers	Brain Cingulate Gyrus	brain
9	chr11:83820400-83821000	Enhancers	Brain Hippocampus Middle	brain
10	chr11:83826200-83826600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr11:83826600-83827400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr11:83827400-83827800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr11:83827800-83828000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr11:83827800-83828600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr11:83828000-83828400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr11:83828200-83828400	Weak transcription	Brain Cingulate Gyrus	brain
17	chr11:83828400-83828600	Enhancers	Brain Cingulate Gyrus	brain
18	chr11:83828600-83834400	Weak transcription	Brain Cingulate Gyrus	brain
19	chr11:83829200-83831600	Enhancers	Brain Angular Gyrus	brain
20	chr11:83829600-83831400	Enhancers	Brain Hippocampus Middle	brain
21	chr11:83831000-83831200	Enhancers	Brain Anterior Caudate	brain
22	chr11:83831000-83831200	Enhancers	Brain Inferior Temporal Lobe	brain
23	chr11:83831200-83831800	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr11:83831200-83839600	Weak transcription	Brain Anterior Caudate	brain
25	chr11:83831400-83834000	Weak transcription	Brain Hippocampus Middle	brain
26	chr11:83831600-83833000	Weak transcription	Brain Angular Gyrus	brain
27	chr11:83831800-83832000	Enhancers	Brain Inferior Temporal Lobe	brain
28	chr11:83832000-83833600	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr11:83833000-83835600	Enhancers	Brain Angular Gyrus	brain
30	chr11:83833600-83834600	Enhancers	Brain Inferior Temporal Lobe	brain
31	chr11:83834000-83834800	Enhancers	Brain Hippocampus Middle	brain
32	chr11:83834000-83835200	Enhancers	Brain Substantia Nigra	brain
33	chr11:83834200-83835400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr11:83834400-83834800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
35	chr11:83834400-83835800	Enhancers	Brain Cingulate Gyrus	brain
36	chr11:83834600-83835000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr11:83834600-83839600	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr11:83834800-83835200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr11:83834800-83838400	Weak transcription	Brain Hippocampus Middle	brain
40	chr11:83835200-83835400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
41	chr11:83835200-83838600	Weak transcription	Brain Substantia Nigra	brain
42	chr11:83835400-83842000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr11:83835600-83836600	Weak transcription	Brain Angular Gyrus	brain
44	chr11:83835800-83838600	Weak transcription	Brain Cingulate Gyrus	brain
45	chr11:83836600-83837400	Enhancers	Brain Angular Gyrus	brain
46	chr11:83837400-83840200	Weak transcription	Brain Angular Gyrus	brain
47	chr11:83838400-83839000	Enhancers	Brain Hippocampus Middle	brain
48	chr11:83838600-83840400	Enhancers	Brain Substantia Nigra	brain
49	chr11:83838600-83840600	Enhancers	Brain Cingulate Gyrus	brain
50	chr11:83839000-83839600	Weak transcription	Brain Hippocampus Middle	brain

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