Variant report

Variant	nsv1041517
Chromosome Location	chr11:84541962-84570167
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

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

No data

Extended variants
information (count: 537 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:537 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs527720083	chr11:84541977-84541978	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs71469658	chr11:84541986-84541987	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs374904872	chr11:84541994-84541995	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs369602316	chr11:84542001-84542002	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs151190710	chr11:84542003-84542004	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs368715291	chr11:84542004-84542005	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs575541939	chr11:84542005-84542006	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs5793139	chr11:84542009-84542010	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs549337658	chr11:84542068-84542069	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs115682432	chr11:84542072-84542073	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs183017238	chr11:84542096-84542097	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs561473115	chr11:84542114-84542115	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs573223656	chr11:84542132-84542133	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs540757434	chr11:84542137-84542138	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs532033571	chr11:84542150-84542151	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs550456743	chr11:84542180-84542181	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs377596705	chr11:84542289-84542290	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs573823556	chr11:84542300-84542301	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs186932776	chr11:84542324-84542325	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs562730770	chr11:84542345-84542346	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs533268646	chr11:84542384-84542385	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs58823490	chr11:84542390-84542391	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs375470764	chr11:84542393-84542394	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs575977721	chr11:84542426-84542427	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs560108109	chr11:84542428-84542429	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs190003839	chr11:84542590-84542591	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs375365597	chr11:84542595-84542596	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs146537730	chr11:84542601-84542602	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs562707078	chr11:84542613-84542614	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs529406705	chr11:84542629-84542630	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs550767688	chr11:84542643-84542644	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs77681188	chr11:84542709-84542710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs371522586	chr11:84542725-84542726	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs183343683	chr11:84542727-84542728	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs141452887	chr11:84542770-84542771	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs571871747	chr11:84542771-84542772	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs143381907	chr11:84542772-84542773	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs539207042	chr11:84542790-84542791	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs187472549	chr11:84542830-84542831	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs555868259	chr11:84542845-84542846	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs192720356	chr11:84542860-84542861	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs544375360	chr11:84542875-84542876	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs185544114	chr11:84542877-84542878	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs577972748	chr11:84542882-84542883	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs545320041	chr11:84542921-84542922	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs12221823	chr11:84542962-84542963	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs200087097	chr11:84542979-84542980	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs559890962	chr11:84542986-84542987	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs527324265	chr11:84542997-84542998	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs79025029	chr11:84543035-84543036	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:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:84536800-84542800	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr11:84537000-84542800	Weak transcription	Fetal Intestine Large	intestine
3	chr11:84540800-84542000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr11:84541200-84542200	Enhancers	Fetal Brain Male	brain
5	chr11:84541400-84542600	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr11:84541800-84544200	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr11:84542200-84542400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr11:84542200-84542400	Enhancers	Pancreatic Islets	Pancreatic Islet
9	chr11:84542600-84543600	Enhancers	Rectal Mucosa Donor 31	rectum
10	chr11:84542800-84543000	Enhancers	Rectal Mucosa Donor 29	rectum
11	chr11:84542800-84545000	Enhancers	Fetal Intestine Large	intestine
12	chr11:84543000-84543600	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr11:84543600-84544000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
14	chr11:84543600-84544600	Enhancers	Rectal Mucosa Donor 29	rectum
15	chr11:84543800-84544600	Enhancers	Fetal Intestine Small	intestine
16	chr11:84544000-84545000	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr11:84544200-84545600	Enhancers	Sigmoid Colon	Sigmoid Colon
18	chr11:84544800-84545000	Enhancers	HSMM	muscle
19	chr11:84548200-84548800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr11:84548400-84549000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr11:84548400-84549000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr11:84548400-84549000	Enhancers	NHEK	skin
23	chr11:84561400-84563200	Weak transcription	HSMMtube	muscle
24	chr11:84563200-84563800	Enhancers	HSMMtube	muscle
25	chr11:84563600-84563800	Enhancers	HSMM	muscle
26	chr11:84563800-84564600	Weak transcription	HSMM	muscle
27	chr11:84563800-84564800	Weak transcription	HSMMtube	muscle
28	chr11:84564200-84566600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr11:84564600-84564800	Enhancers	HSMM	muscle
30	chr11:84564600-84565000	Enhancers	Colon Smooth Muscle	Colon
31	chr11:84564600-84565200	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr11:84564600-84569200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr11:84564600-84569600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr11:84564800-84565000	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr11:84564800-84565200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr11:84564800-84565600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr11:84564800-84565600	Weak transcription	HSMM	muscle
38	chr11:84564800-84567600	Enhancers	HSMMtube	muscle
39	chr11:84564800-84569200	Enhancers	NHDF-Ad	bronchial
40	chr11:84565000-84565200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr11:84565000-84567600	Enhancers	HMEC	breast
42	chr11:84565000-84567600	Enhancers	NHEK	skin
43	chr11:84565000-84568800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr11:84565000-84569200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr11:84565200-84565600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr11:84565200-84566400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr11:84565200-84571000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr11:84565400-84566600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr11:84565600-84567400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr11:84565600-84567800	Enhancers	HSMM	muscle

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