Variant report

Variant	nsv975857
Chromosome Location	chr11:84707735-84708854
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:84708038-84708173	MCF10A-Er-Src	breast:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CREBZF-4	chr11:84708270-84708812	NONHSAT023431

Variant related genes	Relation type
ENSG00000255396	TF binding region

Extended variants
information (count: 45 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:45 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551711317	chr11:84707771-84707772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs4082189	chr11:84707780-84707781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs551303271	chr11:84707851-84707852	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs188474480	chr11:84707886-84707887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs533187752	chr11:84707903-84707904	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs528360666	chr11:84707919-84707920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs551328307	chr11:84707971-84707972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs56017227	chr11:84707991-84707992	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs533984542	chr11:84708054-84708055	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs114964299	chr11:84708111-84708112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs567497058	chr11:84708112-84708113	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs193067647	chr11:84708121-84708122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs7112064	chr11:84708137-84708138	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs549337320	chr11:84708176-84708177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs78102450	chr11:84708198-84708199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs373205805	chr11:84708245-84708246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs116344256	chr11:84708285-84708286	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
18	rs2444254	chr11:84708289-84708290	Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs572177924	chr11:84708304-84708305	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
20	rs542784160	chr11:84708342-84708343	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
21	rs139327369	chr11:84708400-84708401	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
22	rs574204359	chr11:84708404-84708405	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs544461994	chr11:84708412-84708413	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs145446257	chr11:84708420-84708421	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs533418767	chr11:84708424-84708425	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs551364839	chr11:84708447-84708448	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs369007643	chr11:84708463-84708464	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs147681683	chr11:84708469-84708470	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs185790434	chr11:84708516-84708517	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs142348161	chr11:84708527-84708528	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs78575180	chr11:84708534-84708535	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
32	rs145878093	chr11:84708549-84708550	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
33	rs549679945	chr11:84708556-84708557	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
34	rs571566497	chr11:84708584-84708585	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
35	rs538893392	chr11:84708594-84708595	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
36	rs554097139	chr11:84708598-84708599	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
37	rs572117167	chr11:84708603-84708604	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
38	rs190465268	chr11:84708619-84708620	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
39	rs554683335	chr11:84708628-84708629	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
40	rs181644688	chr11:84708633-84708634	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
41	rs544813209	chr11:84708710-84708711	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
42	rs573319174	chr11:84708739-84708740	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
43	rs149001873	chr11:84708774-84708775	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
44	rs2509053	chr11:84708782-84708783	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs545335173	chr11:84708785-84708786	Inactive region	lncRNA	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:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:84706600-84707800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr11:84707800-84708400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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