Variant report

Variant	nsv882784
Chromosome Location	chr5:119537259-119606988
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:119605903..119607846-chr5:119609534..119611047,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DTWD2-4	chr5:119581143-119581328	XLOC_004969

Extended variants
information (count: 1460 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:1460 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569091205	chr5:119542010-119542011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs538021631	chr5:119542012-119542013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs184879901	chr5:119542037-119542038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs551331283	chr5:119542066-119542067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs139007963	chr5:119542069-119542070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs533829259	chr5:119542081-119542082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs553905436	chr5:119542090-119542091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs11740198	chr5:119542129-119542130	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs187752801	chr5:119542141-119542142	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs140699851	chr5:119542166-119542167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs545053633	chr5:119542188-119542189	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs62377032	chr5:119542191-119542192	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs62377033	chr5:119542201-119542202	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs564566822	chr5:119542219-119542220	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs185572480	chr5:119542301-119542302	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs540283648	chr5:119542305-119542306	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs560228952	chr5:119542313-119542314	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs529233846	chr5:119542340-119542341	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs548993109	chr5:119542358-119542359	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs531518501	chr5:119542400-119542401	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs143830884	chr5:119542420-119542421	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs531545807	chr5:119542424-119542425	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs529702211	chr5:119542428-119542429	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs374293430	chr5:119542455-119542456	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs571304308	chr5:119542459-119542460	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs114497821	chr5:119542460-119542461	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs189357650	chr5:119542474-119542475	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs115822197	chr5:119542507-119542508	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs536234105	chr5:119542548-119542549	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs572641329	chr5:119542551-119542552	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs116120761	chr5:119542587-119542588	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs148074521	chr5:119542600-119542601	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs571310495	chr5:119542604-119542605	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs368721915	chr5:119542612-119542613	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs857593	chr5:119542635-119542636	Flanking Active TSS Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs141845375	chr5:119542647-119542648	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs370988607	chr5:119542653-119542654	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs61361850	chr5:119542690-119542691	Flanking Active TSS Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs184640605	chr5:119542693-119542694	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs189059555	chr5:119542735-119542736	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs181405353	chr5:119542747-119542748	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs562696905	chr5:119542789-119542790	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs531731446	chr5:119542803-119542804	Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs544944137	chr5:119542807-119542808	Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs111628507	chr5:119542845-119542846	Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs115476294	chr5:119542849-119542850	Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs13184529	chr5:119542878-119542879	Flanking Active TSS Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs532159167	chr5:119542892-119542893	Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs547642271	chr5:119542968-119542969	Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs567367515	chr5:119542988-119542989	Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Glaucoma	21310917	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:130 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:119542000-119542200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr5:119542000-119542200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr5:119542200-119542400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr5:119542200-119542400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr5:119542200-119542400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr5:119542200-119542400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr5:119542200-119542400	Enhancers	Monocytes-CD14+_RO01746	blood
8	chr5:119542200-119542800	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr5:119542200-119543000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr5:119542200-119543000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr5:119542400-119542600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr5:119542400-119542800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr5:119542400-119542800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr5:119542400-119543000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr5:119542400-119543000	Active TSS	Osteobl	bone
16	chr5:119542400-119543200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
17	chr5:119542400-119543200	Enhancers	NHDF-Ad	bronchial
18	chr5:119542600-119542800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr5:119542800-119543000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr5:119542800-119543200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr5:119542800-119543200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr5:119543000-119543200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr5:119543000-119543600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr5:119543000-119543600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr5:119543200-119543600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr5:119554600-119554800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr5:119554800-119559400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr5:119559400-119559800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr5:119559800-119561200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr5:119561200-119562000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr5:119561400-119570600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr5:119562000-119562600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr5:119562600-119562800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr5:119562800-119564200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr5:119564200-119564600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr5:119564600-119565400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr5:119565400-119567400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr5:119571800-119572400	Enhancers	NHDF-Ad	bronchial
39	chr5:119572000-119572400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr5:119572000-119574200	Enhancers	Primary B cells from cord blood	blood
41	chr5:119573200-119574200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr5:119573200-119575200	Enhancers	Primary monocytes fromperipheralblood	blood
43	chr5:119573400-119574000	Enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr5:119573400-119574800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr5:119573400-119575400	Enhancers	Monocytes-CD14+_RO01746	blood
46	chr5:119573600-119574000	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr5:119573600-119575200	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr5:119573600-119575200	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr5:119573800-119574200	Enhancers	Primary B cells from peripheral blood	blood
50	chr5:119574000-119575000	Weak transcription	Primary hematopoietic stem cells short term culture	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links