Variant report

Variant	esv2421768
Chromosome Location	chr11:85263724-85271345
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 278 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:278 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4943922	chr11:85263724-85263725	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs546091252	chr11:85263811-85263812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs562792923	chr11:85263814-85263815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs533108092	chr11:85263832-85263833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs117480094	chr11:85263849-85263850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs532980063	chr11:85263853-85263854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs549818836	chr11:85263856-85263857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs573480036	chr11:85263910-85263911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs540200025	chr11:85263913-85263914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs34028318	chr11:85263955-85263956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs527422304	chr11:85263971-85263972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs189174391	chr11:85264008-85264009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs561730879	chr11:85264021-85264022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs566885940	chr11:85264101-85264102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs569544726	chr11:85264129-85264130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs537466849	chr11:85264135-85264136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs34478679	chr11:85264158-85264159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs544295174	chr11:85264211-85264212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs550818565	chr11:85264242-85264243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs569462422	chr11:85264284-85264285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs72953993	chr11:85264312-85264313	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs558116424	chr11:85264361-85264362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs566937065	chr11:85264399-85264400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs115120018	chr11:85264478-85264479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs555914121	chr11:85264500-85264501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs192095345	chr11:85264522-85264523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs574054932	chr11:85264551-85264552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs544626397	chr11:85264558-85264559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs556413102	chr11:85264585-85264586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs184689225	chr11:85264588-85264589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs545164592	chr11:85264621-85264622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs188663369	chr11:85264676-85264677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs527496585	chr11:85264693-85264694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs150192908	chr11:85264705-85264706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs34061576	chr11:85264708-85264709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs35099681	chr11:85264738-85264739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs191620919	chr11:85264746-85264747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs560650572	chr11:85264772-85264773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs531170368	chr11:85264778-85264779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs549409589	chr11:85264802-85264803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs17148214	chr11:85264828-85264829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs11234361	chr11:85264891-85264892	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs551936709	chr11:85264926-85264927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs538542705	chr11:85264966-85264967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs147487783	chr11:85264976-85264977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs184918627	chr11:85264980-85264981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs189028650	chr11:85265079-85265080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs551286386	chr11:85265082-85265083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs372538394	chr11:85265127-85265128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs180983949	chr11:85265143-85265144	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
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
Developmental delay	21147756	CNVD
Bipolar disorder	19114987	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Ductal carcinoma	22052326	CNVD
Obesity	20622171	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:85248800-85292000	Weak transcription	Aorta	Aorta
2	chr11:85252200-85266400	Weak transcription	Ovary	ovary
3	chr11:85260400-85266400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr11:85260400-85268600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr11:85261000-85266200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr11:85261400-85284000	Weak transcription	Left Ventricle	heart
7	chr11:85263600-85266000	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr11:85265600-85266200	Enhancers	Right Ventricle	heart
9	chr11:85268600-85269400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
10	chr11:85269600-85270000	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr11:85270000-85272000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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