Variant report

Variant	nsv1052380
Chromosome Location	chr11:84864551-84920320
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:84896254..84898511-chr11:84899081..84901483,2	MCF-7	breast:
2	chr11:84511529..84512428-chr11:84891320..84891992,2	MCF-7	breast:
3	chr11:84901061..84901796-chr11:84979824..84980788,2	MCF-7	breast:
4	chr11:84492333..84495051-chr11:84901283..84903076,2	MCF-7	breast:
5	chr11:84896254..84898511-chr11:84899081..84901483,2	MCF-7	breast:
6	chr11:84911038..84912682-chr11:85158292..85160996,2	MCF-7	breast:

Extended variants
information (count: 1186 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:1186 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544118200	chr11:84864567-84864568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs190350229	chr11:84864588-84864589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs147865538	chr11:84864623-84864624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs372856005	chr11:84864633-84864634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs541016104	chr11:84864639-84864640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs559465900	chr11:84864641-84864642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs530110671	chr11:84864669-84864670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs377687221	chr11:84864681-84864682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs548116421	chr11:84864688-84864689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs573525552	chr11:84864700-84864701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs374755096	chr11:84864728-84864729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs139299335	chr11:84864749-84864750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs375966547	chr11:84864827-84864828	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs11234309	chr11:84864833-84864834	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs562754386	chr11:84864838-84864839	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs114513238	chr11:84864865-84864866	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs576241507	chr11:84864868-84864869	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs80069267	chr11:84864875-84864876	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs370928404	chr11:84864880-84864881	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs183015417	chr11:84864881-84864882	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs560341604	chr11:84864946-84864947	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs372172922	chr11:84864952-84864953	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs11234310	chr11:84864982-84864983	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs558731428	chr11:84864990-84864991	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs534654698	chr11:84865014-84865015	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs79930650	chr11:84865040-84865041	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs528595498	chr11:84865041-84865042	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs568196602	chr11:84865095-84865096	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs11234311	chr11:84865126-84865127	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs141543821	chr11:84865154-84865155	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs556753612	chr11:84865162-84865163	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs11234312	chr11:84865178-84865179	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs34094958	chr11:84865180-84865181	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs397848904	chr11:84865181-84865182	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs397848508	chr11:84865182-84865183	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs576583228	chr11:84865191-84865192	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs71036460	chr11:84865205-84865206	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs577174637	chr11:84865221-84865222	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs368262125	chr11:84865226-84865227	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs568463959	chr11:84865279-84865280	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs186988806	chr11:84865311-84865312	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs559241862	chr11:84865334-84865335	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs75604155	chr11:84865373-84865374	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs541054818	chr11:84865374-84865375	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs191791499	chr11:84865406-84865407	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs147047819	chr11:84865419-84865420	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs542328915	chr11:84865420-84865421	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs563582577	chr11:84865423-84865424	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs569200328	chr11:84865434-84865435	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs80074059	chr11:84865435-84865436	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Developmental delay	21147756	CNVD
Bipolar disorder	19114987	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Ductal carcinoma	22052326	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:148 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:84861400-84865200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr11:84864800-84866400	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr11:84864800-84866600	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr11:84865000-84866400	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr11:84865000-84866400	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr11:84865000-84870200	Weak transcription	Stomach Smooth Muscle	stomach
7	chr11:84865200-84865400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr11:84865200-84866400	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr11:84865200-84866400	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr11:84865200-84866600	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr11:84865400-84865600	Enhancers	H1 Cell Line	embryonic stem cell
12	chr11:84865400-84866200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr11:84865400-84866400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
14	chr11:84865600-84870800	Weak transcription	Fetal Heart	heart
15	chr11:84866000-84866400	Enhancers	H9 Cell Line	embryonic stem cell
16	chr11:84866000-84881200	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr11:84866200-84866400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr11:84866400-84878400	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr11:84866400-84878400	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr11:84870200-84870800	ZNF genes & repeats	Stomach Smooth Muscle	stomach
21	chr11:84871600-84873200	ZNF genes & repeats	Aorta	Aorta
22	chr11:84872400-84872600	Weak transcription	Stomach Smooth Muscle	stomach
23	chr11:84873200-84875200	Weak transcription	Aorta	Aorta
24	chr11:84876000-84876200	Enhancers	Primary B cells from peripheral blood	blood
25	chr11:84876200-84876400	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr11:84876400-84877000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr11:84876800-84877000	Enhancers	Primary B cells from peripheral blood	blood
28	chr11:84877000-84877200	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr11:84877200-84877400	Enhancers	Placenta Amnion	Placenta Amnion
30	chr11:84877200-84878200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr11:84877400-84878400	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr11:84878200-84878800	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr11:84878200-84879000	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr11:84878200-84879000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr11:84878200-84879200	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr11:84878200-84879200	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr11:84878200-84879200	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr11:84878200-84879400	Enhancers	NHEK	skin
39	chr11:84878400-84878600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr11:84878400-84878600	Enhancers	HSMMtube	muscle
41	chr11:84878400-84878800	Enhancers	H9 Cell Line	embryonic stem cell
42	chr11:84878400-84878800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr11:84878400-84879000	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr11:84878400-84879000	Enhancers	Placenta Amnion	Placenta Amnion
45	chr11:84878400-84879200	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr11:84878600-84879400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
47	chr11:84878600-84880800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr11:84878800-84880200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr11:84878800-84881200	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr11:84878800-84881200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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