Variant report

Variant	nsv965099
Chromosome Location	chr3:42342600-42347640
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	chr3:42328116..42330835-chr3:42342852..42344758,2	K562	blood:

Extended variants
information (count: 179 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:179 , 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	rs2888182	chr3:42342619-42342620	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs561957347	chr3:42342620-42342621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs529553113	chr3:42342659-42342660	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs35979826	chr3:42342687-42342688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs35367130	chr3:42342707-42342708	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs1946970	chr3:42342728-42342729	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs77833279	chr3:42342743-42342744	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs564983600	chr3:42342758-42342759	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs565923688	chr3:42342773-42342774	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs1375540	chr3:42342774-42342775	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs144916814	chr3:42342809-42342810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs549499033	chr3:42342831-42342832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs567241176	chr3:42342842-42342843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs1375541	chr3:42342871-42342872	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs558986794	chr3:42342872-42342873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs1349211	chr3:42342884-42342885	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs538822709	chr3:42342896-42342897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs558510093	chr3:42342898-42342899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs79575025	chr3:42342904-42342905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs537120960	chr3:42342954-42342955	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs17072819	chr3:42342970-42342971	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs573685700	chr3:42342982-42342983	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs181430554	chr3:42342990-42342991	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs4571218	chr3:42343013-42343014	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs2371893	chr3:42343038-42343039	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs186540718	chr3:42343039-42343040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs545693964	chr3:42343078-42343079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs565288214	chr3:42343132-42343133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs190104486	chr3:42343145-42343146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs556083324	chr3:42343155-42343156	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs544290448	chr3:42343160-42343161	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs560999651	chr3:42343169-42343170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs9682123	chr3:42343201-42343202	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs546662551	chr3:42343211-42343212	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs115328333	chr3:42343227-42343228	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs114911532	chr3:42343230-42343231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs115622947	chr3:42343266-42343267	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs76911203	chr3:42343290-42343291	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs386660513	chr3:42343321-42343322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs9682135	chr3:42343323-42343324	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs567467675	chr3:42343364-42343365	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs9682282	chr3:42343408-42343409	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs572835605	chr3:42343447-42343448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs181547499	chr3:42343455-42343456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs186488187	chr3:42343566-42343567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs545348294	chr3:42343582-42343583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs559217341	chr3:42343595-42343596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs114802556	chr3:42343602-42343603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs9682293	chr3:42343616-42343617	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs560958979	chr3:42343638-42343639	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
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
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	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
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Wilms tumour	17204608	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-small cell lung cancer	21829676	CNVD
Kartagener syndrome	16639409	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Breast cancer	21509527	CNVD
Melanoma	21693616	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Breast cancer	20409316	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Breast cancer	21364760	CNVD
abnormal development	18461090	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:42342600-42343600	Enhancers	HSMM	muscle
2	chr3:42343200-42346000	Enhancers	Primary B cells from peripheral blood	blood
3	chr3:42343800-42346200	Enhancers	Primary B cells from cord blood	blood
4	chr3:42344000-42345000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr3:42344000-42345000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr3:42344000-42345200	Enhancers	GM12878-XiMat	blood
7	chr3:42344200-42344800	Enhancers	Thymus	Thymus
8	chr3:42344200-42345000	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr3:42344200-42345000	Enhancers	Dnd41	blood
10	chr3:42344200-42345200	Enhancers	Primary hematopoietic stem cells	blood
11	chr3:42344200-42346000	Enhancers	Fetal Thymus	thymus
12	chr3:42344600-42345200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr3:42344600-42345200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr3:42346000-42347600	Weak transcription	Primary B cells from peripheral blood	blood
15	chr3:42347600-42348400	Enhancers	Primary B cells from peripheral blood	blood

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