Variant report

Variant	nsv979764
Chromosome Location	chr3:22834907-22838781
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	chr3:22837140..22837804-chr3:22903829..22904564,2	MCF-7	breast:
2	chr3:22837465..22837989-chr3:22929309..22930132,2	MCF-7	breast:

Extended variants
information (count: 187 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:187 , 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	rs529581986	chr3:22834929-22834930	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs551286928	chr3:22834935-22834936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs74708117	chr3:22834937-22834938	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs190629046	chr3:22834938-22834939	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs147185417	chr3:22834960-22834961	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs566237045	chr3:22834963-22834964	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs183435002	chr3:22834984-22834985	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs548588066	chr3:22834995-22834996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs78740179	chr3:22835001-22835002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs140627773	chr3:22835011-22835012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs78875999	chr3:22835017-22835018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs577758415	chr3:22835024-22835025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs574673091	chr3:22835032-22835033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs144475556	chr3:22835035-22835036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs558244037	chr3:22835037-22835038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs573390910	chr3:22835039-22835040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs187976829	chr3:22835091-22835092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs79393585	chr3:22835130-22835131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs574015622	chr3:22835153-22835154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs192224662	chr3:22835156-22835157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs563244190	chr3:22835171-22835172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs151249494	chr3:22835208-22835209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs182927002	chr3:22835241-22835242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs527361558	chr3:22835301-22835302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs548702218	chr3:22835326-22835327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs567142354	chr3:22835331-22835332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs140471602	chr3:22835341-22835342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs549762261	chr3:22835349-22835350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs574637568	chr3:22835374-22835375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs187267953	chr3:22835377-22835378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs201344098	chr3:22835378-22835379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs76161813	chr3:22835379-22835380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs554032083	chr3:22835383-22835384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs572299044	chr3:22835444-22835445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs534275320	chr3:22835450-22835451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs75712333	chr3:22835466-22835467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs543785389	chr3:22835499-22835500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs79280317	chr3:22835558-22835559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs563003792	chr3:22835631-22835632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs149981776	chr3:22835639-22835640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs192495376	chr3:22835647-22835648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs560297549	chr3:22835697-22835698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs527919321	chr3:22835720-22835721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs548665222	chr3:22835759-22835760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs561041093	chr3:22835768-22835769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs531169062	chr3:22835782-22835783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs549765744	chr3:22835787-22835788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs77798895	chr3:22835794-22835795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs532426441	chr3:22835815-22835816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs116541985	chr3:22835841-22835842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	17327916	CNVD
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	18923191	CNVD
Colorectal cancer	21297112	CNVD
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
lymphocytic leukemia	21291569	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Esophageal cancer	20955586	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Squamous cell cancer	20885788	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Melanoma	20688739	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:22834000-22835000	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr3:22834200-22835000	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr3:22834400-22839800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr3:22834600-22842400	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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