Variant report

Variant	nsv882650
Chromosome Location	chr5:105028872-105174036
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:104726359..104728666-chr5:105131284..105132821,2	K562	blood:
2	chr5:105069835..105071621-chr5:105082502..105084277,2	K562	blood:
3	chr5:105069835..105071621-chr5:105082502..105084277,2	K562	blood:
4	chr5:105087530..105089094-chr6:26156464..26158015,2	K562	blood:
5	chr5:105110281..105111988-chr5:105184711..105186655,2	K562	blood:

Variant related genes	Relation type
ENSG00000168298	chromatin interactions

Extended variants
information (count: 1806 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:1806 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1480588	chr5:105028872-105028873	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs147810562	chr5:105028876-105028877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs35508041	chr5:105028886-105028887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs377721645	chr5:105028887-105028888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs190042275	chr5:105028899-105028900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs567971148	chr5:105028964-105028965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs531690462	chr5:105029002-105029003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs550220413	chr5:105029038-105029039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs201182518	chr5:105029041-105029042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs2061968	chr5:105029046-105029047	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs1383368	chr5:105029059-105029060	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs530028756	chr5:105029069-105029070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs554003358	chr5:105029113-105029114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs368045932	chr5:105029114-105029115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs566658211	chr5:105029150-105029151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs371200340	chr5:105029158-105029159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs199662522	chr5:105029205-105029206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs374778813	chr5:105029224-105029225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs9327947	chr5:105029237-105029238	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs4493643	chr5:105029239-105029240	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs555200357	chr5:105029288-105029289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs571375091	chr5:105029306-105029307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs75424571	chr5:105029307-105029308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs537097648	chr5:105029318-105029319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs535252110	chr5:105029341-105029342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs369464191	chr5:105029342-105029343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs376807577	chr5:105029372-105029373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs550693569	chr5:105029390-105029391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs182507604	chr5:105029415-105029416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs538929313	chr5:105029460-105029461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs553655904	chr5:105029519-105029520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs6888379	chr5:105029540-105029541	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs147974823	chr5:105029549-105029550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs11952981	chr5:105029555-105029556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs575336290	chr5:105029568-105029569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs141613403	chr5:105029580-105029581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs187204568	chr5:105029646-105029647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs6893081	chr5:105029660-105029661	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs150534418	chr5:105029717-105029718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs71952370	chr5:105029718-105029719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs573597692	chr5:105029731-105029732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs543775378	chr5:105029734-105029735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs68084999	chr5:105029735-105029736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs559614671	chr5:105029737-105029738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs372069050	chr5:105029738-105029739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs376714476	chr5:105029800-105029801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs62368416	chr5:105029811-105029812	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs77583545	chr5:105029816-105029817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs565124663	chr5:105029826-105029827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs192030348	chr5:105029839-105029840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	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
Retinoblastoma	22278416	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
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Colorectal cancer	16774939	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	21509527	CNVD
Breast cancer	16608533	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	16773561	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17142309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:105010600-105033400	Weak transcription	Aorta	Aorta
2	chr5:105023200-105033800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr5:105024600-105031200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr5:105025600-105031400	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr5:105025800-105031200	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr5:105031200-105032000	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr5:105031200-105032000	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr5:105031200-105032200	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr5:105031400-105031600	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr5:105031400-105032000	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr5:105031400-105032200	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr5:105031600-105032000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr5:105031600-105032000	Enhancers	H1 Cell Line	embryonic stem cell
14	chr5:105031600-105032000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr5:105031600-105032000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr5:105031600-105032200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr5:105032000-105032200	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr5:105033400-105034200	ZNF genes & repeats	Aorta	Aorta
19	chr5:105033800-105034000	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr5:105061800-105062200	Enhancers	Fetal Muscle Trunk	muscle
21	chr5:105074800-105075000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr5:105075000-105075600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr5:105075600-105076200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr5:105076000-105076400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr5:105076000-105076400	Enhancers	H9 Cell Line	embryonic stem cell
26	chr5:105079800-105080600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr5:105085800-105089600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr5:105089600-105090000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr5:105089600-105090000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr5:105096400-105098000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr5:105098000-105098400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr5:105102800-105103800	Enhancers	HUVEC	blood vessel
33	chr5:105102800-105104000	Enhancers	Hela-S3	cervix
34	chr5:105105800-105117000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr5:105118600-105119000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr5:105123200-105123800	Enhancers	HUVEC	blood vessel
37	chr5:105125200-105125600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr5:105127200-105127600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr5:105140200-105141000	Weak transcription	Aorta	Aorta
40	chr5:105142000-105143400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr5:105143600-105144000	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr5:105146200-105146800	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr5:105147800-105148200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr5:105147800-105148600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr5:105148200-105152800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr5:105148600-105153000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr5:105152600-105153200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr5:105152600-105153800	Enhancers	NHDF-Ad	bronchial
49	chr5:105152600-105154000	Enhancers	Muscle Satellite Cultured Cells	--
50	chr5:105152800-105153000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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