Variant report

Variant	nsv555621
Chromosome Location	chr11:84533831-84568024
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:84539274..84541625-chr11:84541915..84544256,2	MCF-7	breast:
2	chr11:84552115..84554820-chr11:84563186..84564917,2	MCF-7	breast:
3	chr11:84539274..84541625-chr11:84541915..84544256,2	MCF-7	breast:
4	chr11:84546124..84548481-chr11:84550668..84552632,2	MCF-7	breast:
5	chr11:84563887..84565561-chr11:84566594..84569120,2	MCF-7	breast:
6	chr11:84534635..84536505-chr11:84543344..84545069,2	MCF-7	breast:
7	chr11:84541693..84544292-chr11:84548983..84550682,2	K562	blood:
8	chr11:84541693..84544292-chr11:84548983..84550682,2	K562	blood:
9	chr11:84534635..84536505-chr11:84543344..84545069,2	MCF-7	breast:
10	chr11:84563887..84565561-chr11:84566594..84569120,2	MCF-7	breast:
11	chr11:84567200..84570703-chr11:84574977..84578515,4	MCF-7	breast:
12	chr11:84552115..84554820-chr11:84563186..84564917,2	MCF-7	breast:
13	chr11:84546124..84548481-chr11:84550668..84552632,2	MCF-7	breast:

No data

Extended variants
information (count: 718 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:718 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17206578	chr11:84533831-84533832	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs568177472	chr11:84533877-84533878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs193088950	chr11:84533888-84533889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs550628885	chr11:84533902-84533903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs568832193	chr11:84533929-84533930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs117057905	chr11:84533936-84533937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs370458574	chr11:84533941-84533942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs557795710	chr11:84533942-84533943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs566524188	chr11:84533967-84533968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs533895093	chr11:84533999-84534000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs534454377	chr11:84534055-84534056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs574965782	chr11:84534095-84534096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs542508774	chr11:84534096-84534097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs557412951	chr11:84534129-84534130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs575904364	chr11:84534164-84534165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs552662022	chr11:84534168-84534169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs555674807	chr11:84534346-84534347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs545747814	chr11:84534347-84534348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs374903007	chr11:84534415-84534416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs369362607	chr11:84534465-84534466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs528532395	chr11:84534476-84534477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs71465013	chr11:84534490-84534491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs540362066	chr11:84534522-84534523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs143326856	chr11:84534625-84534626	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs55641357	chr11:84534648-84534649	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs561899324	chr11:84534652-84534653	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs60714512	chr11:84534668-84534669	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs67059441	chr11:84534670-84534671	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs188171600	chr11:84534671-84534672	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs529122913	chr11:84534695-84534696	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs574139187	chr11:84534733-84534734	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs550841923	chr11:84534746-84534747	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs555279947	chr11:84534801-84534802	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs141186316	chr11:84534823-84534824	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs551365322	chr11:84534824-84534825	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs61897880	chr11:84534857-84534858	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs559472371	chr11:84534870-84534871	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs566486537	chr11:84534880-84534881	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs533854168	chr11:84534916-84534917	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs555196843	chr11:84534928-84534929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs568631251	chr11:84534981-84534982	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs191562086	chr11:84535017-84535018	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs73514951	chr11:84535029-84535030	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs373616318	chr11:84535041-84535042	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs571890231	chr11:84535095-84535096	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs184034099	chr11:84535106-84535107	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs375182257	chr11:84535127-84535128	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs116318086	chr11:84535146-84535147	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs4511292	chr11:84535150-84535151	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs577728632	chr11:84535159-84535160	Enhancers 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
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
Developmental delay	21147756	CNVD
Bipolar disorder	19114987	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Ductal carcinoma	22052326	CNVD
Breast cancer	17142309	CNVD

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:84530200-84535800	Weak transcription	Left Ventricle	heart
2	chr11:84531000-84535000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr11:84532000-84534600	Weak transcription	Fetal Heart	heart
4	chr11:84534600-84537200	Enhancers	Fetal Heart	heart
5	chr11:84535000-84536000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr11:84535000-84536400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr11:84535600-84536000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr11:84535800-84536000	Enhancers	Left Ventricle	heart
9	chr11:84535800-84536800	Enhancers	Fetal Intestine Small	intestine
10	chr11:84535800-84537000	Enhancers	Fetal Intestine Large	intestine
11	chr11:84536000-84536600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr11:84536000-84536800	Enhancers	Brain Angular Gyrus	brain
13	chr11:84536000-84536800	Enhancers	Fetal Kidney	kidney
14	chr11:84536000-84536800	Enhancers	Rectal Mucosa Donor 29	rectum
15	chr11:84536000-84541200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr11:84536400-84540400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr11:84536800-84542800	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr11:84537000-84542800	Weak transcription	Fetal Intestine Large	intestine
19	chr11:84540000-84540800	Enhancers	NHEK	skin
20	chr11:84540200-84540800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr11:84540400-84540800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr11:84540800-84542000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr11:84541200-84541800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr11:84541200-84542200	Enhancers	Fetal Brain Male	brain
25	chr11:84541400-84542600	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr11:84541600-84541800	Enhancers	Sigmoid Colon	Sigmoid Colon
27	chr11:84541800-84544200	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr11:84542200-84542400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr11:84542200-84542400	Enhancers	Pancreatic Islets	Pancreatic Islet
30	chr11:84542600-84543600	Enhancers	Rectal Mucosa Donor 31	rectum
31	chr11:84542800-84543000	Enhancers	Rectal Mucosa Donor 29	rectum
32	chr11:84542800-84545000	Enhancers	Fetal Intestine Large	intestine
33	chr11:84543000-84543600	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr11:84543600-84544000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
35	chr11:84543600-84544600	Enhancers	Rectal Mucosa Donor 29	rectum
36	chr11:84543800-84544600	Enhancers	Fetal Intestine Small	intestine
37	chr11:84544000-84545000	Enhancers	Rectal Mucosa Donor 31	rectum
38	chr11:84544200-84545600	Enhancers	Sigmoid Colon	Sigmoid Colon
39	chr11:84544800-84545000	Enhancers	HSMM	muscle
40	chr11:84548200-84548800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr11:84548400-84549000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr11:84548400-84549000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr11:84548400-84549000	Enhancers	NHEK	skin
44	chr11:84561400-84563200	Weak transcription	HSMMtube	muscle
45	chr11:84563200-84563800	Enhancers	HSMMtube	muscle
46	chr11:84563600-84563800	Enhancers	HSMM	muscle
47	chr11:84563800-84564600	Weak transcription	HSMM	muscle
48	chr11:84563800-84564800	Weak transcription	HSMMtube	muscle
49	chr11:84564200-84566600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr11:84564600-84564800	Enhancers	HSMM	muscle

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