Variant report

Variant	nsv555620
Chromosome Location	chr11:84530538-84568024
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr11:84539274..84541625-chr11:84541915..84544256,2	MCF-7	breast:
2	chr11:84534635..84536505-chr11:84543344..84545069,2	MCF-7	breast:
3	chr11:84546124..84548481-chr11:84550668..84552632,2	MCF-7	breast:
4	chr11:84541693..84544292-chr11:84548983..84550682,2	K562	blood:
5	chr11:84552115..84554820-chr11:84563186..84564917,2	MCF-7	breast:
6	chr11:84563887..84565561-chr11:84566594..84569120,2	MCF-7	breast:
7	chr11:84525910..84528533-chr11:84530847..84533253,2	MCF-7	breast:
8	chr11:84563887..84565561-chr11:84566594..84569120,2	MCF-7	breast:
9	chr11:84534635..84536505-chr11:84543344..84545069,2	MCF-7	breast:
10	chr11:84541693..84544292-chr11:84548983..84550682,2	K562	blood:
11	chr11:84539274..84541625-chr11:84541915..84544256,2	MCF-7	breast:
12	chr11:84546124..84548481-chr11:84550668..84552632,2	MCF-7	breast:
13	chr11:84552115..84554820-chr11:84563186..84564917,2	MCF-7	breast:
14	chr11:84567200..84570703-chr11:84574977..84578515,4	MCF-7	breast:

No data

Extended variants
information (count: 857 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:857 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4144290	chr11:84530538-84530539	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs376691353	chr11:84530560-84530561	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs556252144	chr11:84530564-84530565	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs577998553	chr11:84530573-84530574	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs192436249	chr11:84530587-84530588	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs138705542	chr11:84530603-84530604	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs556176584	chr11:84530627-84530628	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs148486403	chr11:84530676-84530677	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs533721126	chr11:84530695-84530696	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs542804395	chr11:84530703-84530704	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs561139811	chr11:84530708-84530709	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs576228279	chr11:84530713-84530714	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs550463046	chr11:84530723-84530724	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs183448773	chr11:84530735-84530736	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs564710097	chr11:84530747-84530748	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs188505418	chr11:84530748-84530749	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs547085628	chr11:84530759-84530760	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs192909523	chr11:84530762-84530763	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs372468165	chr11:84530806-84530807	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs184875703	chr11:84530832-84530833	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs368034220	chr11:84530843-84530844	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs549116083	chr11:84530857-84530858	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs541615964	chr11:84530864-84530865	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs61897878	chr11:84530867-84530868	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs77026470	chr11:84530909-84530910	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs550480764	chr11:84530939-84530940	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs369371039	chr11:84530948-84530949	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs568770100	chr11:84530957-84530958	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs376220929	chr11:84531016-84531017	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs114340667	chr11:84531027-84531028	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs189753187	chr11:84531093-84531094	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs566132415	chr11:84531132-84531133	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs536765253	chr11:84531156-84531157	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs147621909	chr11:84531230-84531231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs7950430	chr11:84531254-84531255	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs191219024	chr11:84531258-84531259	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs535871209	chr11:84531273-84531274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs183719159	chr11:84531287-84531288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs540581395	chr11:84531296-84531297	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs557073935	chr11:84531303-84531304	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs529710284	chr11:84531426-84531427	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs188236754	chr11:84531439-84531440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs7937351	chr11:84531448-84531449	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs112996301	chr11:84531461-84531462	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs561303897	chr11:84531534-84531535	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs142151559	chr11:84531551-84531552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs137917172	chr11:84531772-84531773	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs398115579	chr11:84531783-84531784	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs550198410	chr11:84531798-84531799	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs563864525	chr11:84531820-84531821	Weak transcription Enhancers	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:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:84528400-84530600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr11:84528400-84530800	Enhancers	NHEK	skin
3	chr11:84528600-84530600	Enhancers	HMEC	breast
4	chr11:84529200-84531400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr11:84529400-84530800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr11:84529600-84532000	Enhancers	Fetal Heart	heart
7	chr11:84530000-84530600	Enhancers	NHDF-Ad	bronchial
8	chr11:84530000-84530800	Enhancers	HSMMtube	muscle
9	chr11:84530200-84530600	Enhancers	Fetal Muscle Leg	muscle
10	chr11:84530200-84530600	Enhancers	NH-A	brain
11	chr11:84530200-84531000	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr11:84530200-84535800	Weak transcription	Left Ventricle	heart
13	chr11:84530400-84530800	Enhancers	Pancreatic Islets	Pancreatic Islet
14	chr11:84530400-84531000	Enhancers	Fetal Lung	lung
15	chr11:84530600-84531000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr11:84531000-84535000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr11:84532000-84534600	Weak transcription	Fetal Heart	heart
18	chr11:84534600-84537200	Enhancers	Fetal Heart	heart
19	chr11:84535000-84536000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr11:84535000-84536400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr11:84535600-84536000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr11:84535800-84536000	Enhancers	Left Ventricle	heart
23	chr11:84535800-84536800	Enhancers	Fetal Intestine Small	intestine
24	chr11:84535800-84537000	Enhancers	Fetal Intestine Large	intestine
25	chr11:84536000-84536600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr11:84536000-84536800	Enhancers	Brain Angular Gyrus	brain
27	chr11:84536000-84536800	Enhancers	Fetal Kidney	kidney
28	chr11:84536000-84536800	Enhancers	Rectal Mucosa Donor 29	rectum
29	chr11:84536000-84541200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr11:84536400-84540400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr11:84536800-84542800	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr11:84537000-84542800	Weak transcription	Fetal Intestine Large	intestine
33	chr11:84540000-84540800	Enhancers	NHEK	skin
34	chr11:84540200-84540800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr11:84540400-84540800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr11:84540800-84542000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr11:84541200-84541800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr11:84541200-84542200	Enhancers	Fetal Brain Male	brain
39	chr11:84541400-84542600	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr11:84541600-84541800	Enhancers	Sigmoid Colon	Sigmoid Colon
41	chr11:84541800-84544200	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr11:84542200-84542400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr11:84542200-84542400	Enhancers	Pancreatic Islets	Pancreatic Islet
44	chr11:84542600-84543600	Enhancers	Rectal Mucosa Donor 31	rectum
45	chr11:84542800-84543000	Enhancers	Rectal Mucosa Donor 29	rectum
46	chr11:84542800-84545000	Enhancers	Fetal Intestine Large	intestine
47	chr11:84543000-84543600	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr11:84543600-84544000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
49	chr11:84543600-84544600	Enhancers	Rectal Mucosa Donor 29	rectum
50	chr11:84543800-84544600	Enhancers	Fetal Intestine Small	intestine

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