Variant report

Variant	nsv882783
Chromosome Location	chr5:119532996-119605609
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Extended variants
information (count: 1497 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:1497 , 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	rs17635298	chr5:119533008-119533009	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs116407349	chr5:119533056-119533057	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs60560173	chr5:119533171-119533172	Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs557971201	chr5:119533177-119533178	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs538831940	chr5:119533258-119533259	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs73251057	chr5:119533279-119533280	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs572497789	chr5:119533313-119533314	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs187786414	chr5:119533366-119533367	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs572960631	chr5:119533402-119533403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs375589487	chr5:119533428-119533429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs555050028	chr5:119533452-119533453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs192764180	chr5:119533470-119533471	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs543853199	chr5:119533480-119533481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs563558985	chr5:119533516-119533517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs189696653	chr5:119535435-119535436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs182003292	chr5:119535491-119535492	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs146153124	chr5:119535492-119535493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs555251287	chr5:119535493-119535494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs551388130	chr5:119535500-119535501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs186090992	chr5:119535525-119535526	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs563823759	chr5:119535612-119535613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs1157988	chr5:119535613-119535614	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs191863024	chr5:119535632-119535633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs560136863	chr5:119535637-119535638	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs528894509	chr5:119535661-119535662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs183326392	chr5:119535687-119535688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs115418532	chr5:119535688-119535689	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs207466369	chr5:119535692-119535693	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs373758777	chr5:119535700-119535701	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs1157987	chr5:119535729-119535730	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs570833331	chr5:119535733-119535734	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs186628304	chr5:119535745-119535746	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs116200552	chr5:119535750-119535751	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs113410437	chr5:119535770-119535771	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs535459495	chr5:119535783-119535784	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs140004914	chr5:119535790-119535791	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs191327888	chr5:119535796-119535797	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs569091205	chr5:119542010-119542011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs538021631	chr5:119542012-119542013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs184879901	chr5:119542037-119542038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs551331283	chr5:119542066-119542067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs139007963	chr5:119542069-119542070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs533829259	chr5:119542081-119542082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs553905436	chr5:119542090-119542091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs11740198	chr5:119542129-119542130	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs187752801	chr5:119542141-119542142	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs140699851	chr5:119542166-119542167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs545053633	chr5:119542188-119542189	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs62377032	chr5:119542191-119542192	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs62377033	chr5:119542201-119542202	Flanking Active TSS Enhancers Active TSS	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:137 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:119533000-119533200	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
2	chr5:119533000-119533400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
3	chr5:119533000-119533400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
4	chr5:119533200-119533400	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr5:119533200-119533600	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr5:119533400-119533600	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr5:119535400-119535800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr5:119542000-119542200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr5:119542000-119542200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr5:119542200-119542400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr5:119542200-119542400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr5:119542200-119542400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr5:119542200-119542400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr5:119542200-119542400	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr5:119542200-119542800	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr5:119542200-119543000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr5:119542200-119543000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr5:119542400-119542600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr5:119542400-119542800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr5:119542400-119542800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr5:119542400-119543000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr5:119542400-119543000	Active TSS	Osteobl	bone
23	chr5:119542400-119543200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
24	chr5:119542400-119543200	Enhancers	NHDF-Ad	bronchial
25	chr5:119542600-119542800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr5:119542800-119543000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr5:119542800-119543200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr5:119542800-119543200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr5:119543000-119543200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr5:119543000-119543600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr5:119543000-119543600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr5:119543200-119543600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr5:119554600-119554800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr5:119554800-119559400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr5:119559400-119559800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr5:119559800-119561200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr5:119561200-119562000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr5:119561400-119570600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr5:119562000-119562600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr5:119562600-119562800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr5:119562800-119564200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr5:119564200-119564600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr5:119564600-119565400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr5:119565400-119567400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr5:119571800-119572400	Enhancers	NHDF-Ad	bronchial
46	chr5:119572000-119572400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr5:119572000-119574200	Enhancers	Primary B cells from cord blood	blood
48	chr5:119573200-119574200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr5:119573200-119575200	Enhancers	Primary monocytes fromperipheralblood	blood
50	chr5:119573400-119574000	Enhancers	Primary hematopoietic stem cells short term culture	blood

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