Variant report

Variant	nsv526968
Chromosome Location	chr3:145187073-145205172
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	chr3:145182997..145184814-chr3:145187596..145189465,2	MCF-7	breast:

Extended variants
information (count: 80 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:80 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536757380	chr3:145196801-145196802	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs192374205	chr3:145196813-145196814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs576322103	chr3:145196820-145196821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs537205351	chr3:145196821-145196822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs573294894	chr3:145196825-145196826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs149152015	chr3:145196834-145196835	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs185073076	chr3:145196921-145196922	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs189059526	chr3:145196931-145196932	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs143346367	chr3:145196957-145196958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs577543942	chr3:145197004-145197005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs544724771	chr3:145197016-145197017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs192956354	chr3:145197028-145197029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs531792575	chr3:145197111-145197112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs550008921	chr3:145197115-145197116	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs562132836	chr3:145197121-145197122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs139233618	chr3:145197143-145197144	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs141907718	chr3:145197147-145197148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs545154292	chr3:145197149-145197150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs566090653	chr3:145197169-145197170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs115176852	chr3:145197187-145197188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs537109506	chr3:145197211-145197212	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs570115804	chr3:145197213-145197214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs371127185	chr3:145197215-145197216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs537535770	chr3:145197218-145197219	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs79396041	chr3:145197230-145197231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs573736583	chr3:145197264-145197265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs557468866	chr3:145197278-145197279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs147108543	chr3:145197283-145197284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs577582146	chr3:145197320-145197321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs184820404	chr3:145197324-145197325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs77897803	chr3:145201207-145201208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs546103308	chr3:145201217-145201218	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs564092862	chr3:145201219-145201220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs143451208	chr3:145201236-145201237	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs565064262	chr3:145201264-145201265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs73009229	chr3:145201274-145201275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs568102713	chr3:145201317-145201318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs577153460	chr3:145201388-145201389	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs528979501	chr3:145201392-145201393	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs548807683	chr3:145201402-145201403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs4681238	chr3:145201407-145201408	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs534246838	chr3:145201441-145201442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs558795292	chr3:145201452-145201453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs565077445	chr3:145201466-145201467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs374606932	chr3:145201468-145201469	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs544229016	chr3:145201500-145201501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs147979409	chr3:145201519-145201520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs563779294	chr3:145201529-145201530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs556384780	chr3:145201611-145201612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs56890976	chr3:145201613-145201614	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	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
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Autism	18923514	CNVD
Autism	22241247	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Autism	21956041	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Breast cancer	16608533	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Congenital anomalies of the kidney and urinary tract	20605837	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:145196800-145197400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr3:145201200-145202600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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