Variant report

Variant	nsv555905
Chromosome Location	chr11:93018077-93022144
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	chr11:93018701..93021080-chr11:93023667..93026629,2	K562	blood:

Extended variants
information (count: 124 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:124 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2399638	chr11:93018077-93018078	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs554936968	chr11:93018126-93018127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs568769517	chr11:93018138-93018139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs144883010	chr11:93018189-93018190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs554265643	chr11:93018282-93018283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs368860190	chr11:93018301-93018302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs572580474	chr11:93018382-93018383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs180794375	chr11:93018394-93018395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs373621546	chr11:93018396-93018397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs114488129	chr11:93018399-93018400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs576583723	chr11:93018408-93018409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs544188100	chr11:93018416-93018417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs544782182	chr11:93018462-93018463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs562770847	chr11:93018467-93018468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs530064073	chr11:93018524-93018525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs190355282	chr11:93018533-93018534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs181955583	chr11:93018537-93018538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs568335243	chr11:93018544-93018545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs527774247	chr11:93018554-93018555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs12223089	chr11:93018556-93018557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs185913248	chr11:93018605-93018606	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs190726368	chr11:93018641-93018642	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs556873112	chr11:93018660-93018661	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs148261727	chr11:93018668-93018669	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs182552155	chr11:93018676-93018677	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs11020241	chr11:93018715-93018716	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs12278390	chr11:93018750-93018751	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs140387231	chr11:93018825-93018826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs150361923	chr11:93018877-93018878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs558189381	chr11:93018911-93018912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs138022004	chr11:93018918-93018919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs551249443	chr11:93018938-93018939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs142804505	chr11:93018991-93018992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs544370126	chr11:93018993-93018994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs556215158	chr11:93019012-93019013	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs574661944	chr11:93019049-93019050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs80307509	chr11:93019104-93019105	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs560489088	chr11:93019204-93019205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs369544411	chr11:93019254-93019255	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs370079433	chr11:93019263-93019264	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs575144500	chr11:93019307-93019308	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs4575225	chr11:93019466-93019467	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs11020242	chr11:93019552-93019553	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs542912895	chr11:93019676-93019677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs7483680	chr11:93019731-93019732	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs375141813	chr11:93019754-93019755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs78870262	chr11:93019795-93019796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs550326867	chr11:93019832-93019833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs143559945	chr11:93019833-93019834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs185644607	chr11:93019837-93019838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
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
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
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Renal cell carcinoma	18194544	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	17133270	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
Mantle cell lymphoma	19029149	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Basal cell lymphoma	16790693	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93016600-93020600	Weak transcription	GM12878-XiMat	blood
2	chr11:93018600-93018800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr11:93018600-93018800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:93018800-93020600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr11:93018800-93021400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr11:93019000-93019600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr11:93019400-93028600	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr11:93020600-93021200	Enhancers	GM12878-XiMat	blood
9	chr11:93020600-93021600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr11:93021200-93021800	Flanking Active TSS	GM12878-XiMat	blood
11	chr11:93021400-93021600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr11:93021400-93021600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr11:93021600-93024400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr11:93021800-93023400	Enhancers	GM12878-XiMat	blood

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