Variant report

Variant	nsv1033412
Chromosome Location	chr4:132508870-132550415
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	chr4:132495865..132498860-chr4:132534309..132536542,2	K562	blood:
2	chr10:15257912..15258445-chr4:132538874..132539729,2	MCF-7	breast:

Extended variants
information (count: 1113 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:1113 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114367861	chr4:132508936-132508937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs557901265	chr4:132508942-132508943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs577948531	chr4:132508962-132508963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs532751071	chr4:132508984-132508985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs563028970	chr4:132509007-132509008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs369484420	chr4:132509016-132509017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs138622171	chr4:132509153-132509154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs540572810	chr4:132509161-132509162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs372488806	chr4:132509172-132509173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs189682013	chr4:132509178-132509179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs76587666	chr4:132509186-132509187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs149565979	chr4:132509197-132509198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs112330912	chr4:132509206-132509207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs551697552	chr4:132509301-132509302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs554053116	chr4:132509317-132509318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs571696379	chr4:132509339-132509340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs11730589	chr4:132509355-132509356	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs181205281	chr4:132509365-132509366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs574201507	chr4:132509369-132509370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs75165704	chr4:132509376-132509377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs553301624	chr4:132509386-132509387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs185643618	chr4:132509391-132509392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs189668517	chr4:132509410-132509411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs576088224	chr4:132509439-132509440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs565217349	chr4:132509506-132509507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs17839125	chr4:132509528-132509529	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs62318279	chr4:132509537-132509538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs376772870	chr4:132509542-132509543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs543031781	chr4:132509543-132509544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs62318280	chr4:132509594-132509595	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs553261103	chr4:132509619-132509620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs377290551	chr4:132509620-132509621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs528987372	chr4:132509674-132509675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs28714103	chr4:132509731-132509732	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs559331658	chr4:132509763-132509764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs374579457	chr4:132509781-132509782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs17460275	chr4:132509906-132509907	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs551730902	chr4:132509917-132509918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs350977	chr4:132509933-132509934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs187289505	chr4:132509974-132509975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs529990501	chr4:132510006-132510007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs550018514	chr4:132510047-132510048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs9996082	chr4:132510072-132510073	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs192039173	chr4:132510092-132510093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs183542870	chr4:132510095-132510096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs553431493	chr4:132510196-132510197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs144217172	chr4:132510226-132510227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs539206871	chr4:132510318-132510319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs148711378	chr4:132510474-132510475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs546903129	chr4:132510516-132510517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Breast cancer	16272173	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Esophageal cancer	21851588	CNVD
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Neuroblastoma	21899760	CNVD
Renal cell carcinoma	18194544	CNVD
Olfactory neuroblastoma	18408657	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20459617	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Mental retardation	17847001	CNVD
Myelofibrosis	22110671	CNVD
Autism	18923514	CNVD
Autism	22241247	CNVD
Mental retardation	17901693	CNVD
small cell lung cancer	20016488	CNVD
Anaplastic thyroid cancer	18753363	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:132506600-132525800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:132524600-132526000	Enhancers	NHEK	skin
3	chr4:132524800-132526000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr4:132524800-132526200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr4:132525800-132526600	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr4:132525800-132526800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr4:132526000-132531200	Weak transcription	NHEK	skin
8	chr4:132526000-132533600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr4:132526200-132526600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr4:132526600-132526800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr4:132526800-132529400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr4:132526800-132530800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr4:132529400-132529800	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr4:132529800-132530400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr4:132530200-132530600	Enhancers	Muscle Satellite Cultured Cells	--
16	chr4:132530200-132532600	Enhancers	HMEC	breast
17	chr4:132530200-132532600	Enhancers	HUVEC	blood vessel
18	chr4:132530400-132532600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr4:132530600-132531600	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr4:132530800-132532200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr4:132531200-132532600	Enhancers	NHEK	skin
22	chr4:132531600-132532200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr4:132531600-132532200	Enhancers	Hela-S3	cervix
24	chr4:132531600-132532400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr4:132531600-132532600	Enhancers	Muscle Satellite Cultured Cells	--
26	chr4:132532000-132532400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr4:132532200-132532600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr4:132532600-132534800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr4:132534600-132534800	Active TSS	GM12878-XiMat	blood
30	chr4:132534800-132535000	Flanking Active TSS	GM12878-XiMat	blood
31	chr4:132534800-132535200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr4:132534800-132535400	Enhancers	Primary monocytes fromperipheralblood	blood
33	chr4:132534800-132535600	Enhancers	Primary B cells from cord blood	blood
34	chr4:132535000-132535200	Enhancers	GM12878-XiMat	blood
35	chr4:132535200-132535400	Flanking Active TSS	GM12878-XiMat	blood
36	chr4:132535400-132535800	Enhancers	GM12878-XiMat	blood
37	chr4:132548800-132549200	Active TSS	Fetal Heart	heart

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