Variant report

Variant	nsv595291
Chromosome Location	chr4:119126335-119127926
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:49 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10018706	chr4:119126335-119126336	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs539740081	chr4:119126343-119126344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs553304339	chr4:119126365-119126366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs572910440	chr4:119126366-119126367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs186635851	chr4:119126477-119126478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs143038118	chr4:119126546-119126547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs555550072	chr4:119126592-119126593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs575671273	chr4:119126672-119126673	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs544334121	chr4:119126702-119126703	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs34248952	chr4:119126717-119126718	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs28665169	chr4:119126720-119126721	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs74812588	chr4:119126740-119126741	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs540479215	chr4:119126776-119126777	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs13121129	chr4:119126931-119126932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs560424882	chr4:119126937-119126938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs148210537	chr4:119126979-119126980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs151020290	chr4:119126987-119126988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs56843725	chr4:119126988-119126989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs77222274	chr4:119126989-119126990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs79665470	chr4:119127002-119127003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs397995128	chr4:119127005-119127006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs545401295	chr4:119127011-119127012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs192720113	chr4:119127050-119127051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs569382145	chr4:119127074-119127075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs530617081	chr4:119127093-119127094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs558885291	chr4:119127115-119127116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs570414184	chr4:119127137-119127138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs184639649	chr4:119127145-119127146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs545667823	chr4:119127208-119127209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs189912293	chr4:119127235-119127236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs535411815	chr4:119127286-119127287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs555522002	chr4:119127367-119127368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs192869466	chr4:119127372-119127373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs117267435	chr4:119127391-119127392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs7699653	chr4:119127398-119127399	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs577576938	chr4:119127512-119127513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs530653851	chr4:119127516-119127517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs141221090	chr4:119127647-119127648	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs369855981	chr4:119127648-119127649	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs550718776	chr4:119127650-119127651	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs570858230	chr4:119127674-119127675	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs557841853	chr4:119127763-119127764	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs373335980	chr4:119127778-119127779	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs184430938	chr4:119127779-119127780	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs138508424	chr4:119127793-119127794	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs78721511	chr4:119127814-119127815	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs550654324	chr4:119127847-119127848	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs547105785	chr4:119127867-119127868	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs570575581	chr4:119127915-119127916	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
Autism	22495311	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
Melanoma	18172304	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
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	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
Colorectal cancer	20459617	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
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18194544	CNVD
Autism	19246517	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:119125800-119127600	Weak transcription	Dnd41	blood
2	chr4:119126600-119126800	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
3	chr4:119126800-119129600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr4:119127600-119131200	Strong transcription	Dnd41	blood

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