Variant report

Variant	nsv3928
Chromosome Location	chr3:103541342-103586367
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:103575079..103576806-chr3:103584240..103586997,2	K562	blood:
2	chr12:57117722..57120174-chr3:103567759..103569281,2	MCF-7	breast:
3	chr3:103575079..103576806-chr3:103584240..103586997,2	K562	blood:

Variant related genes	Relation type
ENSG00000196531	chromatin interactions

Extended variants
information (count: 443 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:443 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs115694294	chr3:103541373-103541374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs186760230	chr3:103541393-103541394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs568395531	chr3:103541439-103541440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs79370483	chr3:103541480-103541481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs571505953	chr3:103541500-103541501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs557120005	chr3:103541517-103541518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs569116300	chr3:103541538-103541539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs191225170	chr3:103541547-103541548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs557588422	chr3:103541566-103541567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs574081190	chr3:103541577-103541578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs61461941	chr3:103541583-103541584	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs182098085	chr3:103541600-103541601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs2608477	chr3:103541624-103541625	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs377017870	chr3:103541627-103541628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs544526284	chr3:103541636-103541637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs562624439	chr3:103541639-103541640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs533183234	chr3:103541646-103541647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs2608476	chr3:103541698-103541699	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs372768833	chr3:103541715-103541716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs564406917	chr3:103541722-103541723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs538518207	chr3:103541723-103541724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs528612436	chr3:103541741-103541742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs188865922	chr3:103541760-103541761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs193207535	chr3:103541782-103541783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs578072254	chr3:103541800-103541801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs568159066	chr3:103541891-103541892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs534153504	chr3:103541897-103541898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs185208270	chr3:103541937-103541938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs550867667	chr3:103541974-103541975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs75579712	chr3:103542031-103542032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs539661682	chr3:103542050-103542051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs558366351	chr3:103542063-103542064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs566423518	chr3:103542073-103542074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs143136192	chr3:103542145-103542146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs56667088	chr3:103542228-103542229	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs560109446	chr3:103542230-103542231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs573680986	chr3:103542260-103542261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs544489347	chr3:103542267-103542268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs556511929	chr3:103542272-103542273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs190201923	chr3:103542283-103542284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs544851401	chr3:103542285-103542286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs148257038	chr3:103542307-103542308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs202202795	chr3:103542375-103542376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs397829715	chr3:103542384-103542385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs558720801	chr3:103542386-103542387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs372355874	chr3:103542418-103542419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs117823805	chr3:103542424-103542425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs191936637	chr3:103542526-103542527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs11299919	chr3:103542558-103542559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs529273620	chr3:103542604-103542605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
Myelofibrosis	22110671	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD
Developmental delay	22180640	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:103538800-103542800	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr3:103542800-103543400	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr3:103556200-103556600	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr3:103556200-103556600	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr3:103564000-103564400	Enhancers	Pancreas	Pancrea
6	chr3:103564600-103564800	Enhancers	HepG2	liver
7	chr3:103564800-103565600	Weak transcription	HepG2	liver
8	chr3:103565600-103567600	Enhancers	HepG2	liver
9	chr3:103576800-103579400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr3:103577800-103578200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr3:103580200-103581200	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr3:103580400-103581200	Enhancers	H9 Cell Line	embryonic stem cell

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