Variant report

Variant	esv3495716
Chromosome Location	chr11:83464566-83468004
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:83465597..83467714-chr11:83469852..83471903,2	K562	blood:

Extended variants
information (count: 118 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:118 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573921757	chr11:83464566-83464567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs370780054	chr11:83464613-83464614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs554047235	chr11:83464660-83464661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs570894302	chr11:83464679-83464680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs112025878	chr11:83464682-83464683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs200927175	chr11:83464697-83464698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs542326000	chr11:83464762-83464763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs561963075	chr11:83464767-83464768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs563799316	chr11:83464774-83464775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs564384323	chr11:83464779-83464780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs183212898	chr11:83464802-83464803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs71066063	chr11:83464842-83464843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs143112109	chr11:83464843-83464844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs146151329	chr11:83464844-83464845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs138982069	chr11:83464854-83464855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs201785118	chr11:83464855-83464856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs12800326	chr11:83464863-83464864	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs201988506	chr11:83464864-83464865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs191180225	chr11:83464865-83464866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs568308092	chr11:83464866-83464867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs562723645	chr11:83464868-83464869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs182967551	chr11:83464887-83464888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs535688406	chr11:83464888-83464889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs550239890	chr11:83464889-83464890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs201083487	chr11:83464902-83464903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs188476701	chr11:83464905-83464906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs372298405	chr11:83464909-83464910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs67032862	chr11:83464910-83464911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs397711069	chr11:83464917-83464918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs12287189	chr11:83464918-83464919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs199753954	chr11:83464921-83464922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs539385752	chr11:83464927-83464928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs557478566	chr11:83464929-83464930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs12287101	chr11:83464936-83464937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs533836383	chr11:83464945-83464946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs117357527	chr11:83464947-83464948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs111746684	chr11:83464958-83464959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs544704157	chr11:83465003-83465004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs556625998	chr11:83465038-83465039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs200726094	chr11:83465090-83465091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs557455006	chr11:83465095-83465096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs191290218	chr11:83465106-83465107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs546130484	chr11:83465118-83465119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs564322862	chr11:83465191-83465192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs183045168	chr11:83465234-83465235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs540557780	chr11:83465278-83465279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs17548479	chr11:83465336-83465337	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs529419097	chr11:83465396-83465397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs11233740	chr11:83465413-83465414	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs139101754	chr11:83465451-83465452	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
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:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:83460800-83471800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr11:83461200-83472000	Weak transcription	Brain Inferior Temporal Lobe	brain

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