Variant report

Variant	nsv983168
Chromosome Location	chr11:56482140-56491125
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	chr11:56489679..56491375-chr11:56501753..56504134,2	K562	blood:

Variant related genes	Relation type
ENSG00000254953	chromatin interactions

Extended variants
information (count: 422 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:422 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs578213548	chr11:56482153-56482154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs141985734	chr11:56482154-56482155	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs190006837	chr11:56482156-56482157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs375952064	chr11:56482183-56482184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs542811360	chr11:56482205-56482206	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs561052620	chr11:56482210-56482211	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs531650479	chr11:56482235-56482236	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs519513	chr11:56482248-56482249	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs565104585	chr11:56482277-56482278	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs545457	chr11:56482335-56482336	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs182285555	chr11:56482379-56482380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs566748153	chr11:56482390-56482391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs527529000	chr11:56482432-56482433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs143024140	chr11:56482453-56482454	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs151179674	chr11:56482514-56482515	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs375982891	chr11:56482535-56482536	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs140152060	chr11:56482565-56482566	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs570053480	chr11:56482576-56482577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs150356349	chr11:56482599-56482600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs566815648	chr11:56482601-56482602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs550725707	chr11:56482625-56482626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs571190548	chr11:56482629-56482630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs115493414	chr11:56482672-56482673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs137989912	chr11:56482683-56482684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs140995624	chr11:56482698-56482699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs368334381	chr11:56482715-56482716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs542825457	chr11:56482716-56482717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs554705394	chr11:56482739-56482740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs12574836	chr11:56482758-56482759	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs543535893	chr11:56482764-56482765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs34298114	chr11:56482793-56482794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs187999298	chr11:56482803-56482804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs532440859	chr11:56482822-56482823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs144913524	chr11:56482853-56482854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs560189930	chr11:56482864-56482865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs546846775	chr11:56482871-56482872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs193237181	chr11:56482882-56482883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs200503960	chr11:56482907-56482908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs549221590	chr11:56482932-56482933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs138757210	chr11:56482948-56482949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs531519222	chr11:56482956-56482957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs549651690	chr11:56482981-56482982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs571318709	chr11:56482989-56482990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs79489038	chr11:56483000-56483001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs4285887	chr11:56483011-56483012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs183501158	chr11:56483028-56483029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs149361719	chr11:56483052-56483053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs188555088	chr11:56483075-56483076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs144657117	chr11:56483078-56483079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs35765464	chr11:56483089-56483090	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:50)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Renal cell carcinoma	18194544	CNVD
Glioblastoma multiforme	21138945	CNVD
Prostate cancer	18632612	CNVD
Esophageal cancer	21851588	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute lymphoblastic leukemia	20067559	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
Breast cancer	21364760	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16272173	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Pituitary adenoma	18645599	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Breast cancer	17142309	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:56480800-56482600	Enhancers	Dnd41	blood
2	chr11:56482000-56482200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr11:56482200-56484000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr11:56482600-56483400	Weak transcription	Dnd41	blood
5	chr11:56483400-56484400	Enhancers	Rectal Mucosa Donor 31	rectum
6	chr11:56483400-56484400	Enhancers	Dnd41	blood
7	chr11:56484000-56484400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr11:56484400-56487200	Weak transcription	Dnd41	blood
9	chr11:56485600-56486000	Enhancers	Fetal Intestine Small	intestine
10	chr11:56487200-56491800	Enhancers	Dnd41	blood

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