Variant report

Variant	nsv975335
Chromosome Location	chr11:92975294-92989536
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:92976993..92978643-chr11:92979823..92981713,2	K562	blood:
2	chr11:92979143..92981325-chr11:92984873..92986984,2	K562	blood:
3	chr11:92979143..92981325-chr11:92984873..92986984,2	K562	blood:
4	chr11:92976993..92978643-chr11:92979823..92981713,2	K562	blood:

Extended variants
information (count: 331 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:331 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529042376	chr11:92981032-92981033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs556443273	chr11:92981078-92981079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs547526932	chr11:92981089-92981090	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs565836971	chr11:92981133-92981134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs539694181	chr11:92981178-92981179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs182030849	chr11:92981243-92981244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs185961615	chr11:92981310-92981311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs537572593	chr11:92981323-92981324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs7946227	chr11:92981336-92981337	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs12275035	chr11:92981426-92981427	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs201505507	chr11:92981458-92981459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs533047372	chr11:92981474-92981475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs534914971	chr11:92981479-92981480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs553486325	chr11:92981488-92981489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs578198724	chr11:92981493-92981494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs1446904	chr11:92981528-92981529	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs56332495	chr11:92981606-92981607	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs575627879	chr11:92981657-92981658	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs190724498	chr11:92981660-92981661	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs561454727	chr11:92981661-92981662	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs56397291	chr11:92981684-92981685	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs547292913	chr11:92981697-92981698	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs559467330	chr11:92981748-92981749	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs1446905	chr11:92981763-92981764	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs537883361	chr11:92981775-92981776	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs551633928	chr11:92981808-92981809	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs549097772	chr11:92981809-92981810	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs570114383	chr11:92981821-92981822	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs369970501	chr11:92981822-92981823	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs537433574	chr11:92981850-92981851	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs34038872	chr11:92981857-92981858	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs549358630	chr11:92981878-92981879	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs567764541	chr11:92981978-92981979	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs535090172	chr11:92981979-92981980	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs557720847	chr11:92981983-92981984	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs147838526	chr11:92982019-92982020	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs576664346	chr11:92982029-92982030	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs578107288	chr11:92982065-92982066	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs375081196	chr11:92982075-92982076	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs373986543	chr11:92982090-92982091	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs12099012	chr11:92982098-92982099	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs557221868	chr11:92982109-92982110	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs113057346	chr11:92982158-92982159	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs372795959	chr11:92982222-92982223	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs543015643	chr11:92982229-92982230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs534251120	chr11:92982261-92982262	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs16918713	chr11:92982297-92982298	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs573672959	chr11:92982325-92982326	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs541108861	chr11:92982403-92982404	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs537388702	chr11:92982404-92982405	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:92981000-92981400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr11:92981400-92981800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr11:92981600-92981800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr11:92981600-92982200	Active TSS	Fetal Brain Male	brain
5	chr11:92981800-92982800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr11:92981800-92983800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr11:92981800-92984200	Enhancers	Stomach Smooth Muscle	stomach
8	chr11:92982000-92984200	Enhancers	Fetal Lung	lung
9	chr11:92982400-92983600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr11:92982400-92984000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr11:92982400-92984200	Enhancers	Fetal Stomach	stomach
12	chr11:92982600-92983200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr11:92982600-92983200	Enhancers	Aorta	Aorta
14	chr11:92982600-92983600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr11:92982600-92983800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr11:92982800-92983200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr11:92982800-92983200	Enhancers	HSMMtube	muscle
18	chr11:92983000-92983200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr11:92983000-92983200	Enhancers	Fetal Intestine Large	intestine
20	chr11:92983000-92983600	Enhancers	Fetal Intestine Small	intestine
21	chr11:92983000-92983800	Enhancers	Liver	Liver
22	chr11:92983200-92984600	Weak transcription	Fetal Intestine Large	intestine
23	chr11:92983200-92985000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr11:92983600-92984000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr11:92983600-92984400	Weak transcription	Fetal Intestine Small	intestine
26	chr11:92983800-92985000	Weak transcription	Liver	Liver
27	chr11:92983800-92989000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr11:92984000-92985000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr11:92984600-92985400	Enhancers	Fetal Intestine Large	intestine
30	chr11:92985000-92985200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr11:92985000-92985200	Enhancers	Liver	Liver
32	chr11:92985000-92985400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr11:92985000-92985600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr11:92985000-92986200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr11:92985200-92985400	Enhancers	Fetal Intestine Small	intestine
36	chr11:92988800-92991000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr11:92989000-92990400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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