Variant report

Variant	nsv555623
Chromosome Location	chr11:84538675-84568024
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: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	chr11:84552115..84554820-chr11:84563186..84564917,2	MCF-7	breast:
2	chr11:84539274..84541625-chr11:84541915..84544256,2	MCF-7	breast:
3	chr11:84541693..84544292-chr11:84548983..84550682,2	K562	blood:
4	chr11:84563887..84565561-chr11:84566594..84569120,2	MCF-7	breast:
5	chr11:84534635..84536505-chr11:84543344..84545069,2	MCF-7	breast:
6	chr11:84546124..84548481-chr11:84550668..84552632,2	MCF-7	breast:
7	chr11:84563887..84565561-chr11:84566594..84569120,2	MCF-7	breast:
8	chr11:84546124..84548481-chr11:84550668..84552632,2	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	chr11:84539274..84541625-chr11:84541915..84544256,2	MCF-7	breast:
12	chr11:84567200..84570703-chr11:84574977..84578515,4	MCF-7	breast:

No data

Extended variants
information (count: 529 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:529 , 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	rs11601386	chr11:84538675-84538676	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs544119008	chr11:84538708-84538709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs565539766	chr11:84538713-84538714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs371664224	chr11:84538718-84538719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs35005294	chr11:84538720-84538721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs398016953	chr11:84538741-84538742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs532859996	chr11:84538770-84538771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs547740699	chr11:84538774-84538775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs559502906	chr11:84538814-84538815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs147127724	chr11:84538844-84538845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs187175716	chr11:84538965-84538966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs569508504	chr11:84538986-84538987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs191229133	chr11:84539105-84539106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs542732707	chr11:84539124-84539125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs184475231	chr11:84539131-84539132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs374889600	chr11:84539228-84539229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs187961148	chr11:84539243-84539244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs552920255	chr11:84539246-84539247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs551424217	chr11:84539266-84539267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs567994441	chr11:84539277-84539278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs11234195	chr11:84539403-84539404	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs115411168	chr11:84539435-84539436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs556820579	chr11:84539437-84539438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs4944496	chr11:84539473-84539474	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs140620001	chr11:84539621-84539622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs200297525	chr11:84539626-84539627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs559218798	chr11:84539632-84539633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs374376019	chr11:84539684-84539685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs541395091	chr11:84539692-84539693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs559677719	chr11:84539715-84539716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs376159392	chr11:84539721-84539722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs542296400	chr11:84539760-84539761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs193037478	chr11:84539773-84539774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs185727332	chr11:84539786-84539787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs150779324	chr11:84539847-84539848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs570349219	chr11:84539865-84539866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs528367884	chr11:84539874-84539875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs546628204	chr11:84539937-84539938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs568039646	chr11:84540018-84540019	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs577636616	chr11:84540020-84540021	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs535067094	chr11:84540022-84540023	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs371356937	chr11:84540057-84540058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs58373351	chr11:84540130-84540131	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs139140127	chr11:84540161-84540162	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs61897909	chr11:84540189-84540190	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs373313781	chr11:84540204-84540205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs368440334	chr11:84540246-84540247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs559179863	chr11:84540256-84540257	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs149809394	chr11:84540262-84540263	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs571406614	chr11:84540285-84540286	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:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:84536000-84541200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:84536400-84540400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr11:84536800-84542800	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr11:84537000-84542800	Weak transcription	Fetal Intestine Large	intestine
5	chr11:84540000-84540800	Enhancers	NHEK	skin
6	chr11:84540200-84540800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr11:84540400-84540800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr11:84540800-84542000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr11:84541200-84541800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr11:84541200-84542200	Enhancers	Fetal Brain Male	brain
11	chr11:84541400-84542600	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr11:84541600-84541800	Enhancers	Sigmoid Colon	Sigmoid Colon
13	chr11:84541800-84544200	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr11:84542200-84542400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr11:84542200-84542400	Enhancers	Pancreatic Islets	Pancreatic Islet
16	chr11:84542600-84543600	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr11:84542800-84543000	Enhancers	Rectal Mucosa Donor 29	rectum
18	chr11:84542800-84545000	Enhancers	Fetal Intestine Large	intestine
19	chr11:84543000-84543600	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr11:84543600-84544000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
21	chr11:84543600-84544600	Enhancers	Rectal Mucosa Donor 29	rectum
22	chr11:84543800-84544600	Enhancers	Fetal Intestine Small	intestine
23	chr11:84544000-84545000	Enhancers	Rectal Mucosa Donor 31	rectum
24	chr11:84544200-84545600	Enhancers	Sigmoid Colon	Sigmoid Colon
25	chr11:84544800-84545000	Enhancers	HSMM	muscle
26	chr11:84548200-84548800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr11:84548400-84549000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr11:84548400-84549000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr11:84548400-84549000	Enhancers	NHEK	skin
30	chr11:84561400-84563200	Weak transcription	HSMMtube	muscle
31	chr11:84563200-84563800	Enhancers	HSMMtube	muscle
32	chr11:84563600-84563800	Enhancers	HSMM	muscle
33	chr11:84563800-84564600	Weak transcription	HSMM	muscle
34	chr11:84563800-84564800	Weak transcription	HSMMtube	muscle
35	chr11:84564200-84566600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr11:84564600-84564800	Enhancers	HSMM	muscle
37	chr11:84564600-84565000	Enhancers	Colon Smooth Muscle	Colon
38	chr11:84564600-84565200	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr11:84564600-84569200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr11:84564600-84569600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr11:84564800-84565000	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr11:84564800-84565200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr11:84564800-84565600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr11:84564800-84565600	Weak transcription	HSMM	muscle
45	chr11:84564800-84567600	Enhancers	HSMMtube	muscle
46	chr11:84564800-84569200	Enhancers	NHDF-Ad	bronchial
47	chr11:84565000-84565200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr11:84565000-84567600	Enhancers	HMEC	breast
49	chr11:84565000-84567600	Enhancers	NHEK	skin
50	chr11:84565000-84568800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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