Variant report

Variant	esv3438550
Chromosome Location	chr11:83288104-83289652
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:53 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183539730	chr11:83288105-83288106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs565318331	chr11:83288234-83288235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs532398557	chr11:83288270-83288271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs141966695	chr11:83288353-83288354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs35734934	chr11:83288354-83288355	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs536716041	chr11:83288358-83288359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs200933377	chr11:83288380-83288381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs556639273	chr11:83288382-83288383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs548395024	chr11:83288387-83288388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs569867115	chr11:83288491-83288492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs569581992	chr11:83288502-83288503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs537390938	chr11:83288513-83288514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs188607253	chr11:83288515-83288516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs146293674	chr11:83288532-83288533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs191056672	chr11:83288539-83288540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs534307350	chr11:83288540-83288541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs183235281	chr11:83288542-83288543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs76200112	chr11:83288630-83288631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs373626833	chr11:83288632-83288633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs377227319	chr11:83288636-83288637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs548285181	chr11:83288669-83288670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs10898137	chr11:83288936-83288937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs187556363	chr11:83288989-83288990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs541901377	chr11:83289079-83289080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs374634525	chr11:83289085-83289086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs369932889	chr11:83289086-83289087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs201528737	chr11:83289100-83289101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs370422830	chr11:83289101-83289102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs374419466	chr11:83289103-83289104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs368193641	chr11:83289104-83289105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs557204095	chr11:83289112-83289113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs191320429	chr11:83289114-83289115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs372251677	chr11:83289115-83289116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs554190947	chr11:83289116-83289117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs183508862	chr11:83289117-83289118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs368595220	chr11:83289118-83289119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs373117582	chr11:83289119-83289120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs199685385	chr11:83289134-83289135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs564199905	chr11:83289170-83289171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs367854546	chr11:83289175-83289176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs532569860	chr11:83289210-83289211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs541082825	chr11:83289270-83289271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs4100074	chr11:83289277-83289278	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs556331073	chr11:83289285-83289286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs530135552	chr11:83289288-83289289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs548235431	chr11:83289337-83289338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs528406495	chr11:83289406-83289407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs376682400	chr11:83289438-83289439	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs188073497	chr11:83289520-83289521	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs142992772	chr11:83289546-83289547	Weak transcription Enhancers	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:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:83279000-83289800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr11:83279200-83291200	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr11:83283800-83291400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr11:83286400-83290000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr11:83286400-83294200	Weak transcription	NHEK	skin
6	chr11:83288000-83289800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr11:83288000-83290000	Weak transcription	Brain Hippocampus Middle	brain
8	chr11:83289400-83290600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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