Variant report

Variant	esv32962
Chromosome Location	chr11:85264773-85272684
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 291 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:291 , 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	rs531170368	chr11:85264778-85264779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs549409589	chr11:85264802-85264803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs17148214	chr11:85264828-85264829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs11234361	chr11:85264891-85264892	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs551936709	chr11:85264926-85264927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs538542705	chr11:85264966-85264967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs147487783	chr11:85264976-85264977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs184918627	chr11:85264980-85264981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs189028650	chr11:85265079-85265080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs551286386	chr11:85265082-85265083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs372538394	chr11:85265127-85265128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs180983949	chr11:85265143-85265144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs538240093	chr11:85265156-85265157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs560364876	chr11:85265258-85265259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs138086713	chr11:85265278-85265279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs568678160	chr11:85265292-85265293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs149511026	chr11:85265293-85265294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs187090572	chr11:85265325-85265326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs144081089	chr11:85265359-85265360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs576983659	chr11:85265392-85265393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs542426344	chr11:85265422-85265423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs538530672	chr11:85265454-85265455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs1504029	chr11:85265478-85265479	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs148689662	chr11:85265496-85265497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs543386050	chr11:85265536-85265537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs549328110	chr11:85265542-85265543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs189449576	chr11:85265554-85265555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs181552489	chr11:85265555-85265556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs116483082	chr11:85265570-85265571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs567269701	chr11:85265613-85265614	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs537882307	chr11:85265618-85265619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs549863338	chr11:85265628-85265629	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs185692546	chr11:85265636-85265637	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs142234820	chr11:85265701-85265702	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs369877130	chr11:85265749-85265750	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs190543659	chr11:85265769-85265770	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs549644007	chr11:85265770-85265771	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs77300868	chr11:85265779-85265780	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs60357912	chr11:85265780-85265781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs61547780	chr11:85265782-85265783	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs61542251	chr11:85265783-85265784	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs55640802	chr11:85265785-85265786	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs146177711	chr11:85265802-85265803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs539411493	chr11:85265808-85265809	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs556158607	chr11:85265811-85265812	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs571521552	chr11:85265823-85265824	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs368739387	chr11:85265870-85265871	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs539024233	chr11:85265873-85265874	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs139109085	chr11:85265895-85265896	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs572051872	chr11:85265904-85265905	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
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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