Variant report

Variant	esv10103
Chromosome Location	chr11:92704480-92707592
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:92705291..92706952-chr11:92706991..92709874,2	K562	blood:
2	chr11:92705291..92706952-chr11:92706991..92709874,2	K562	blood:
3	chr11:92691938..92693949-chr11:92705448..92707896,2	K562	blood:

Extended variants
information (count: 117 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:117 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548767657	chr11:92704508-92704509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs149733705	chr11:92704514-92704515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs191251321	chr11:92704549-92704550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs182412774	chr11:92704561-92704562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs182939648	chr11:92704577-92704578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs529784344	chr11:92704620-92704621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs185877220	chr11:92704630-92704631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs78997060	chr11:92704655-92704656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs371582144	chr11:92704675-92704676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs189751659	chr11:92704694-92704695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs76371840	chr11:92704695-92704696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs534118182	chr11:92704734-92704735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs12287402	chr11:92704758-92704759	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs374561629	chr11:92704834-92704835	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs116625623	chr11:92704895-92704896	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs537807787	chr11:92704905-92704906	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs12287509	chr11:92704910-92704911	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs368509065	chr11:92704958-92704959	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs4388843	chr11:92704986-92704987	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs541918564	chr11:92704992-92704993	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs573686546	chr11:92705002-92705003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs374066069	chr11:92705016-92705017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs145155407	chr11:92705059-92705060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs200429710	chr11:92705093-92705094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs376345189	chr11:92705099-92705100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs572269956	chr11:92705100-92705101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs537622025	chr11:92705101-92705102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs4601728	chr11:92705158-92705159	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs112910195	chr11:92705201-92705202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs78367929	chr11:92705214-92705215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs182355770	chr11:92705254-92705255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs543909243	chr11:92705264-92705265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs562497757	chr11:92705273-92705274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs149113036	chr11:92705286-92705287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs12804291	chr11:92705307-92705308	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs544140746	chr11:92705339-92705340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs527456657	chr11:92705341-92705342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs370337259	chr11:92705342-92705343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs561119068	chr11:92705357-92705358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs552506350	chr11:92705371-92705372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs112604267	chr11:92705384-92705385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs143206033	chr11:92705397-92705398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs201429572	chr11:92705409-92705410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs538134630	chr11:92705449-92705450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs556329850	chr11:92705468-92705469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs151217753	chr11:92705553-92705554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs535589080	chr11:92705577-92705578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs375929000	chr11:92705606-92705607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs200858672	chr11:92705623-92705624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs553820665	chr11:92705656-92705657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Cervical cancer	21062161	CNVD
Prostate cancer	18632612	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
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	22429812	CNVD
Breast cancer	16608533	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	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
Myelofibrosis	22110671	CNVD
Breast cancer	21958427	CNVD
Breast cancer	17133270	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Renal cell carcinoma	18194544	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Autism	19546859	CNVD
Fragile x	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ductal carcinoma	22052326	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Mental retardation	21062444	CNVD
Cancer	21499728	CNVD
Breast cancer	19181860	CNVD
Breast cancer	17603634	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:92703400-92711000	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr11:92704600-92705000	Weak transcription	Placenta	Placenta
3	chr11:92704800-92705000	Enhancers	HUES64 Cell Line	embryonic stem cell

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