Variant report

Variant	nsv236493
Chromosome Location	chr3:102503531-102512005
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 182 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:182 , 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	rs181913729	chr3:102507401-102507402	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs187064848	chr3:102507407-102507408	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs529099670	chr3:102507422-102507423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs75711483	chr3:102507451-102507452	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs143332412	chr3:102507464-102507465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs6799194	chr3:102507486-102507487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs568917958	chr3:102507519-102507520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs191893804	chr3:102507527-102507528	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs78866092	chr3:102507577-102507578	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs181506585	chr3:102507578-102507579	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs141573549	chr3:102507593-102507594	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs186940959	chr3:102507604-102507605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs538444937	chr3:102507640-102507641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs145916491	chr3:102507641-102507642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs578171907	chr3:102507648-102507649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs545515468	chr3:102507673-102507674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs138482706	chr3:102507716-102507717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs141503097	chr3:102507732-102507733	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs146188120	chr3:102507738-102507739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs574112812	chr3:102507751-102507752	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs531331668	chr3:102507776-102507777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs529126729	chr3:102507791-102507792	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs550403278	chr3:102507854-102507855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs139086261	chr3:102507860-102507861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs149491481	chr3:102507895-102507896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs190440123	chr3:102507933-102507934	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs368916271	chr3:102507934-102507935	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs533805107	chr3:102507935-102507936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs144036112	chr3:102507964-102507965	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs148675420	chr3:102507985-102507986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs182598355	chr3:102507998-102507999	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs186926174	chr3:102508017-102508018	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs142171757	chr3:102508066-102508067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs77095428	chr3:102508107-102508108	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs554253913	chr3:102508125-102508126	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs73141840	chr3:102508208-102508209	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs543009787	chr3:102508228-102508229	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs554659204	chr3:102508245-102508246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs573647048	chr3:102508277-102508278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs189719643	chr3:102508292-102508293	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs544082235	chr3:102508294-102508295	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs184148505	chr3:102508305-102508306	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs147837583	chr3:102508381-102508382	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs544777035	chr3:102508416-102508417	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs201664226	chr3:102508421-102508422	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs114018691	chr3:102508488-102508489	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs9882411	chr3:102508533-102508534	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs139789329	chr3:102508534-102508535	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs567170337	chr3:102508564-102508565	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs368302452	chr3:102508591-102508592	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Neurodevelopmental disorder	22521361	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Ductal carcinoma	22052326	CNVD
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Myelofibrosis	22110671	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:102507400-102509000	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr3:102507600-102508400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr3:102508000-102509800	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr3:102508200-102508400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr3:102508200-102508600	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr3:102508200-102508600	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr3:102508200-102508600	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr3:102508400-102512200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr3:102508400-102518800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr3:102508600-102509600	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr3:102509000-102511000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr3:102509400-102510000	Enhancers	NH-A	brain
13	chr3:102509600-102510000	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr3:102509800-102511400	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr3:102510000-102511000	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr3:102510000-102511000	Weak transcription	NH-A	brain
17	chr3:102510000-102511200	Enhancers	NHDF-Ad	bronchial
18	chr3:102510400-102511400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr3:102510400-102511600	Enhancers	Fetal Lung	lung
20	chr3:102510800-102511400	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr3:102511000-102511200	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr3:102511000-102511400	Enhancers	NH-A	brain
23	chr3:102511000-102512000	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr3:102511200-102511600	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr3:102511400-102512000	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr3:102511400-102512600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr3:102511600-102512000	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr3:102511600-102515400	Weak transcription	Fetal Lung	lung

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