Variant report

Variant	nsv591945
Chromosome Location	chr3:146387602-146397951
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 111 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:111 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566284809	chr3:146395021-146395022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs183105335	chr3:146395077-146395078	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs116143440	chr3:146395166-146395167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs114967768	chr3:146395167-146395168	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs150494154	chr3:146395169-146395170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs138792695	chr3:146395197-146395198	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs578214071	chr3:146395208-146395209	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs141949986	chr3:146395215-146395216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs77935303	chr3:146395221-146395222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs118181812	chr3:146395248-146395249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs545503245	chr3:146395276-146395277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs187400588	chr3:146395312-146395313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs146316850	chr3:146395330-146395331	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs10935639	chr3:146395398-146395399	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs79428541	chr3:146395446-146395447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs564389730	chr3:146395510-146395511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs533102963	chr3:146395546-146395547	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs557855560	chr3:146395550-146395551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs11709433	chr3:146395563-146395564	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs11713544	chr3:146395589-146395590	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs11709435	chr3:146395611-146395612	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs115852647	chr3:146395629-146395630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs566220219	chr3:146395655-146395656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs116237513	chr3:146395700-146395701	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs191220346	chr3:146395708-146395709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs35416181	chr3:146395721-146395722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs183074260	chr3:146395752-146395753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs571884626	chr3:146395760-146395761	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs148581347	chr3:146395793-146395794	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs546910850	chr3:146395799-146395800	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs556085287	chr3:146395814-146395815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs575952187	chr3:146395977-146395978	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs11718101	chr3:146396006-146396007	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs538878485	chr3:146396083-146396084	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs79779484	chr3:146396140-146396141	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs142982091	chr3:146396173-146396174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs187969069	chr3:146396177-146396178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs557686586	chr3:146396183-146396184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs201521328	chr3:146396187-146396188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs374297110	chr3:146396190-146396191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs377735358	chr3:146396220-146396221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs192797861	chr3:146396222-146396223	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs541403295	chr3:146396267-146396268	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs11718196	chr3:146396321-146396322	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs34327211	chr3:146396364-146396365	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs374147129	chr3:146396383-146396384	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs569777535	chr3:146396385-146396386	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs139884553	chr3:146396393-146396394	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs145088802	chr3:146396453-146396454	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs62275443	chr3:146396547-146396548	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:53)

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

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:146395000-146397600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr3:146396600-146396800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr3:146397600-146399200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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