Variant report

Variant	nsv555622
Chromosome Location	chr11:84536635-84571784
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 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	chr11:84567200..84570703-chr11:84574977..84578515,4	MCF-7	breast:
4	chr11:84563887..84565561-chr11:84566594..84569120,2	MCF-7	breast:
5	chr11:84563887..84565561-chr11:84566594..84569120,2	MCF-7	breast:
6	chr11:84546124..84548481-chr11:84550668..84552632,2	MCF-7	breast:
7	chr11:84539274..84541625-chr11:84541915..84544256,2	MCF-7	breast:
8	chr11:84541693..84544292-chr11:84548983..84550682,2	K562	blood:
9	chr11:84552115..84554820-chr11:84563186..84564917,2	MCF-7	breast:
10	chr11:84546124..84548481-chr11:84550668..84552632,2	MCF-7	breast:
11	chr11:84541693..84544292-chr11:84548983..84550682,2	K562	blood:
12	chr11:84534635..84536505-chr11:84543344..84545069,2	MCF-7	breast:

No data

Extended variants
information (count: 809 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:809 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1943699	chr11:84536635-84536636	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs12789686	chr11:84536648-84536649	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs143279206	chr11:84536652-84536653	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs185721330	chr11:84536655-84536656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs572215546	chr11:84536699-84536700	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs151257338	chr11:84536786-84536787	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs560699462	chr11:84536801-84536802	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs534789747	chr11:84536837-84536838	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs543105588	chr11:84536847-84536848	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs189836491	chr11:84536861-84536862	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs553570234	chr11:84536868-84536869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs538408204	chr11:84536880-84536881	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs568817351	chr11:84536911-84536912	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs11234194	chr11:84536918-84536919	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs548018313	chr11:84536932-84536933	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs551531092	chr11:84536937-84536938	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs566739144	chr11:84536980-84536981	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs527960242	chr11:84537028-84537029	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs140500859	chr11:84537034-84537035	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs567548104	chr11:84537058-84537059	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs538276589	chr11:84537122-84537123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs556601812	chr11:84537139-84537140	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs571743244	chr11:84537199-84537200	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs116719582	chr11:84537219-84537220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs553997285	chr11:84537220-84537221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs572233796	chr11:84537236-84537237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs542554785	chr11:84537260-84537261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs7946198	chr11:84537292-84537293	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs545069917	chr11:84537299-84537300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs76978728	chr11:84537318-84537319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs377437872	chr11:84537340-84537341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs564561224	chr11:84537472-84537473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs532043119	chr11:84537477-84537478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs145920743	chr11:84537480-84537481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs560456934	chr11:84537496-84537497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs12272366	chr11:84537512-84537513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs527930581	chr11:84537534-84537535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs138483454	chr11:84537582-84537583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs567903952	chr11:84537617-84537618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs182453387	chr11:84537649-84537650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs187298604	chr11:84537701-84537702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs550167255	chr11:84537711-84537712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs571705344	chr11:84537798-84537799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs143021437	chr11:84537802-84537803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs554354617	chr11:84537810-84537811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs374788686	chr11:84537817-84537818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs370215035	chr11:84537818-84537819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs536406978	chr11:84537832-84537833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs554469629	chr11:84537868-84537869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs571966123	chr11:84537881-84537882	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:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:84534600-84537200	Enhancers	Fetal Heart	heart
2	chr11:84535800-84536800	Enhancers	Fetal Intestine Small	intestine
3	chr11:84535800-84537000	Enhancers	Fetal Intestine Large	intestine
4	chr11:84536000-84536800	Enhancers	Brain Angular Gyrus	brain
5	chr11:84536000-84536800	Enhancers	Fetal Kidney	kidney
6	chr11:84536000-84536800	Enhancers	Rectal Mucosa Donor 29	rectum
7	chr11:84536000-84541200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr11:84536400-84540400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr11:84536800-84542800	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr11:84537000-84542800	Weak transcription	Fetal Intestine Large	intestine
11	chr11:84540000-84540800	Enhancers	NHEK	skin
12	chr11:84540200-84540800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr11:84540400-84540800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr11:84540800-84542000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr11:84541200-84541800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr11:84541200-84542200	Enhancers	Fetal Brain Male	brain
17	chr11:84541400-84542600	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr11:84541600-84541800	Enhancers	Sigmoid Colon	Sigmoid Colon
19	chr11:84541800-84544200	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr11:84542200-84542400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr11:84542200-84542400	Enhancers	Pancreatic Islets	Pancreatic Islet
22	chr11:84542600-84543600	Enhancers	Rectal Mucosa Donor 31	rectum
23	chr11:84542800-84543000	Enhancers	Rectal Mucosa Donor 29	rectum
24	chr11:84542800-84545000	Enhancers	Fetal Intestine Large	intestine
25	chr11:84543000-84543600	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr11:84543600-84544000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
27	chr11:84543600-84544600	Enhancers	Rectal Mucosa Donor 29	rectum
28	chr11:84543800-84544600	Enhancers	Fetal Intestine Small	intestine
29	chr11:84544000-84545000	Enhancers	Rectal Mucosa Donor 31	rectum
30	chr11:84544200-84545600	Enhancers	Sigmoid Colon	Sigmoid Colon
31	chr11:84544800-84545000	Enhancers	HSMM	muscle
32	chr11:84548200-84548800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr11:84548400-84549000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr11:84548400-84549000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr11:84548400-84549000	Enhancers	NHEK	skin
36	chr11:84561400-84563200	Weak transcription	HSMMtube	muscle
37	chr11:84563200-84563800	Enhancers	HSMMtube	muscle
38	chr11:84563600-84563800	Enhancers	HSMM	muscle
39	chr11:84563800-84564600	Weak transcription	HSMM	muscle
40	chr11:84563800-84564800	Weak transcription	HSMMtube	muscle
41	chr11:84564200-84566600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr11:84564600-84564800	Enhancers	HSMM	muscle
43	chr11:84564600-84565000	Enhancers	Colon Smooth Muscle	Colon
44	chr11:84564600-84565200	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr11:84564600-84569200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr11:84564600-84569600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr11:84564800-84565000	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr11:84564800-84565200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr11:84564800-84565600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr11:84564800-84565600	Weak transcription	HSMM	muscle

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