Variant report

Variant	nsv442025
Chromosome Location	chr7:3434276-3439223
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:3436200..3438648-chr7:3443337..3445077,2	K562	blood:
2	chr7:3435622..3438009-chr7:3442617..3444470,2	MCF-7	breast:
3	chr7:3439202..3440208-chr7:3521793..3522518,3	MCF-7	breast:
4	chr7:3425641..3430182-chr7:3430225..3435357,4	MCF-7	breast:
5	chr7:3424678..3427459-chr7:3437708..3440654,2	MCF-7	breast:
6	chr7:3438230..3440428-chr7:3448766..3450871,2	MCF-7	breast:
7	chr7:3427962..3429690-chr7:3438000..3440152,2	K562	blood:
8	chr7:3436200..3439462-chr7:3442138..3445077,3	K562	blood:

Extended variants
information (count: 173 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:173 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551402407	chr7:3435023-3435024	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs138483361	chr7:3435047-3435048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs191995582	chr7:3435049-3435050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs554062004	chr7:3435080-3435081	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs573836325	chr7:3435090-3435091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs143941365	chr7:3435102-3435103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs546117795	chr7:3435116-3435117	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs184595724	chr7:3435118-3435119	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs564694330	chr7:3435143-3435144	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs74887283	chr7:3435165-3435166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs116884430	chr7:3435168-3435169	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs145892325	chr7:3435170-3435171	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs189181456	chr7:3435175-3435176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs376417545	chr7:3435211-3435212	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs577646876	chr7:3435217-3435218	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs540252979	chr7:3435261-3435262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs560857309	chr7:3435262-3435263	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs529530036	chr7:3435266-3435267	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs543207111	chr7:3435286-3435287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs531442153	chr7:3435307-3435308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs563028046	chr7:3435308-3435309	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs549557145	chr7:3435312-3435313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs73296353	chr7:3435337-3435338	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs551546966	chr7:3435352-3435353	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs75601199	chr7:3435359-3435360	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs562004531	chr7:3435360-3435361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs181201901	chr7:3435433-3435434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs549362796	chr7:3435470-3435471	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs528878514	chr7:3435476-3435477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs541612588	chr7:3435496-3435497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs547051470	chr7:3435512-3435513	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs138702445	chr7:3435515-3435516	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs111647770	chr7:3435520-3435521	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs1581417	chr7:3435522-3435523	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs569563855	chr7:3435532-3435533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs538426990	chr7:3435560-3435561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs184315153	chr7:3435691-3435692	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs577683699	chr7:3435728-3435729	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs374410002	chr7:3435737-3435738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs6969267	chr7:3435750-3435751	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs370376451	chr7:3435791-3435792	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs553832361	chr7:3435797-3435798	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs574282245	chr7:3435810-3435811	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs542989839	chr7:3435821-3435822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs28875559	chr7:3435839-3435840	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs563172815	chr7:3435886-3435887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs531970657	chr7:3435893-3435894	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs545601391	chr7:3435897-3435898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs564986313	chr7:3435913-3435914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs527350158	chr7:3435916-3435917	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Chordoma	21602918	CNVD
Lynch syndrome	22585707	CNVD
Follicular lymphoma	20505157	CNVD
Breast cancer	16397240	CNVD
Raine Syndrome	17924334	CNVD
Diffuse large b-cell lymphoma	21266526	CNVD
Melanoma	18172304	CNVD
Sudden cardiac death	19188705	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Glioma	18556773	CNVD
Ovarian cancer	21720365	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Developmental delay	21147756	CNVD
Prostate cancer	18632612	CNVD
Urothelial carcinoma	21177765	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Nasopharyngeal cancer	20548289	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
Spondylocostal dysostosis	21085971	CNVD
Mental retardation	17901693	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	22286061	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	20164920	CNVD
Pancreatic cancer	17952125	CNVD
Colorectal cancer	21645411	CNVD
Intellectual disability	21811512	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:3435000-3436000	Enhancers	Pancreatic Islets	Pancreatic Islet
2	chr7:3437200-3438000	ZNF genes & repeats	Fetal Lung	lung
3	chr7:3437400-3437800	Active TSS	Fetal Heart	heart
4	chr7:3437800-3448000	Weak transcription	Fetal Heart	heart
5	chr7:3439000-3439200	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr7:3439000-3440000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr7:3439200-3439600	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr7:3439200-3439600	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr7:3439200-3439600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
10	chr7:3439200-3440000	Enhancers	H1 Cell Line	embryonic stem cell
11	chr7:3439200-3440000	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr7:3439200-3440000	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr7:3439200-3440000	Enhancers	iPS-18 Cell Line	embryonic stem cell

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