Variant report

Variant	nsv882785
Chromosome Location	chr5:119557828-119606988
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: 1273 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:1273 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1023614	chr5:119557828-119557829	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs112303528	chr5:119557835-119557836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs117412909	chr5:119557842-119557843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs191053143	chr5:119557896-119557897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs375841998	chr5:119557899-119557900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs546356609	chr5:119557930-119557931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs180771904	chr5:119557932-119557933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs535436191	chr5:119557945-119557946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs548962075	chr5:119557962-119557963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs187468981	chr5:119557989-119557990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs568876078	chr5:119558015-119558016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs537715304	chr5:119558094-119558095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs138359329	chr5:119558104-119558105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs116440579	chr5:119558120-119558121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs540070171	chr5:119558125-119558126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs553181129	chr5:119558127-119558128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs529266019	chr5:119558202-119558203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs573246561	chr5:119558254-119558255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs191024377	chr5:119558283-119558284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs372739724	chr5:119558323-119558324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs183167552	chr5:119558375-119558376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs575252763	chr5:119558427-119558428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs544086229	chr5:119558431-119558432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs564434357	chr5:119558453-119558454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs35336765	chr5:119558454-119558455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs1015728	chr5:119558455-119558456	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs144715817	chr5:119558461-119558462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs551264505	chr5:119558566-119558567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs149255130	chr5:119558577-119558578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs144492572	chr5:119558581-119558582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs182533896	chr5:119558591-119558592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs537865774	chr5:119558656-119558657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs550987558	chr5:119558787-119558788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs571161117	chr5:119558792-119558793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs539752536	chr5:119558829-119558830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs553482706	chr5:119558854-119558855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs573123123	chr5:119558857-119558858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs376916974	chr5:119558876-119558877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs7711749	chr5:119558991-119558992	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs374194562	chr5:119558995-119558996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs527500751	chr5:119559015-119559016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs575212676	chr5:119559023-119559024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs544247618	chr5:119559036-119559037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs577830492	chr5:119559050-119559051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs187868229	chr5:119559062-119559063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs192746083	chr5:119559069-119559070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs529119476	chr5:119559072-119559073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs376553157	chr5:119559104-119559105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs56702959	chr5:119559177-119559178	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs184477193	chr5:119559193-119559194	Weak transcription	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:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:119554800-119559400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr5:119559400-119559800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr5:119559800-119561200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr5:119561200-119562000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr5:119561400-119570600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr5:119562000-119562600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr5:119562600-119562800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr5:119562800-119564200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr5:119564200-119564600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr5:119564600-119565400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr5:119565400-119567400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr5:119571800-119572400	Enhancers	NHDF-Ad	bronchial
13	chr5:119572000-119572400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr5:119572000-119574200	Enhancers	Primary B cells from cord blood	blood
15	chr5:119573200-119574200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr5:119573200-119575200	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr5:119573400-119574000	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr5:119573400-119574800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr5:119573400-119575400	Enhancers	Monocytes-CD14+_RO01746	blood
20	chr5:119573600-119574000	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr5:119573600-119575200	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr5:119573600-119575200	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr5:119573800-119574200	Enhancers	Primary B cells from peripheral blood	blood
24	chr5:119574000-119575000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr5:119574000-119575200	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr5:119574200-119576400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr5:119574800-119575200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr5:119574800-119575400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr5:119574800-119575800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr5:119575000-119575200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr5:119575000-119575200	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr5:119575000-119575200	Enhancers	Fetal Heart	heart
33	chr5:119575200-119575800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr5:119575200-119576400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr5:119575400-119576400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr5:119575400-119576600	Weak transcription	Fetal Heart	heart
37	chr5:119575400-119577800	Weak transcription	Monocytes-CD14+_RO01746	blood
38	chr5:119575800-119576600	Enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr5:119575800-119577400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr5:119576400-119576600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr5:119576400-119577200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr5:119576400-119577400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr5:119576600-119576800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr5:119576600-119577000	Enhancers	HSMM	muscle
45	chr5:119576600-119578000	Enhancers	Fetal Heart	heart
46	chr5:119576800-119577000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr5:119576800-119577200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr5:119577000-119577400	Enhancers	Left Ventricle	heart
49	chr5:119577000-119577600	Enhancers	HSMMtube	muscle
50	chr5:119577400-119578000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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