Variant report

Variant	nsv966314
Chromosome Location	chr4:120313494-120315954
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 108 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:108 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531760315	chr4:120313536-120313537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs79918797	chr4:120313538-120313539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs79165664	chr4:120313539-120313540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs74580117	chr4:120313541-120313542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs551669640	chr4:120313543-120313544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs190306688	chr4:120313545-120313546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs527687795	chr4:120313578-120313579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs192050054	chr4:120313594-120313595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs567542022	chr4:120313614-120313615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs536785733	chr4:120313674-120313675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs550277516	chr4:120313683-120313684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs369376741	chr4:120313684-120313685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs184929456	chr4:120313749-120313750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs558096592	chr4:120313774-120313775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs368264328	chr4:120313809-120313810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs533844018	chr4:120313830-120313831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs553772396	chr4:120313926-120313927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs189306960	chr4:120313929-120313930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs181905741	chr4:120313930-120313931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs186288509	chr4:120313987-120313988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs115200920	chr4:120314057-120314058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs545150504	chr4:120314103-120314104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs62322289	chr4:120314122-120314123	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs571932857	chr4:120314123-120314124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs11098512	chr4:120314161-120314162	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs189092461	chr4:120314190-120314191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs200417878	chr4:120314213-120314214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs375643611	chr4:120314222-120314223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs201500150	chr4:120314223-120314224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs376488389	chr4:120314224-120314225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs7678547	chr4:120314225-120314226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs61499171	chr4:120314253-120314254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs530089032	chr4:120314283-120314284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs550313742	chr4:120314307-120314308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs376834788	chr4:120314343-120314344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs531540641	chr4:120314347-120314348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs7679230	chr4:120314350-120314351	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs571346540	chr4:120314353-120314354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs534132401	chr4:120314370-120314371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs553752812	chr4:120314373-120314374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs567268119	chr4:120314552-120314553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs181554690	chr4:120314562-120314563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs555842000	chr4:120314567-120314568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs575778546	chr4:120314579-120314580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs186233296	chr4:120314602-120314603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs559139269	chr4:120314605-120314606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs572525685	chr4:120314617-120314618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs541733094	chr4:120314625-120314626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs146822839	chr4:120314639-120314640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs113534949	chr4:120314641-120314642	Weak 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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:120311600-120318400	Weak transcription	Pancreas	Pancrea
2	chr4:120313200-120318000	Weak transcription	HSMMtube	muscle

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