Variant report

Variant	nsv1000815
Chromosome Location	chr3:84698671-84711713
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 331 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:331 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529997321	chr3:84703004-84703005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs13322481	chr3:84703011-84703012	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs376332915	chr3:84703066-84703067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs560735409	chr3:84703157-84703158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs527973156	chr3:84703190-84703191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs552932012	chr3:84703192-84703193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs34825935	chr3:84703213-84703214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs571053320	chr3:84703237-84703238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs182385290	chr3:84703270-84703271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs550361275	chr3:84703271-84703272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs75128783	chr3:84703347-84703348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs115345560	chr3:84703411-84703412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs554157518	chr3:84703445-84703446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs566161276	chr3:84703455-84703456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs547249732	chr3:84703456-84703457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs568385103	chr3:84703462-84703463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs188221648	chr3:84703484-84703485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs181324244	chr3:84703526-84703527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs576590961	chr3:84703557-84703558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs185584797	chr3:84703618-84703619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs556354463	chr3:84703636-84703637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs574893234	chr3:84703689-84703690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs541993705	chr3:84703730-84703731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs367589529	chr3:84703756-84703757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs191863072	chr3:84703762-84703763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs183249038	chr3:84703783-84703784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs186968776	chr3:84703785-84703786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs192059445	chr3:84703791-84703792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs550368128	chr3:84703796-84703797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs535664607	chr3:84703803-84703804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs562407903	chr3:84703832-84703833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs529778373	chr3:84703868-84703869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs62255476	chr3:84703895-84703896	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs201145806	chr3:84703980-84703981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs566124522	chr3:84704031-84704032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs376120829	chr3:84704054-84704055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs533555903	chr3:84704059-84704060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs369723345	chr3:84704191-84704192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs143372206	chr3:84704234-84704235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs113740064	chr3:84704243-84704244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs568502797	chr3:84704273-84704274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs146712609	chr3:84704274-84704275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs374106820	chr3:84704300-84704301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs147143056	chr3:84704312-84704313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs186713040	chr3:84704339-84704340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs112672756	chr3:84704343-84704344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs556308897	chr3:84704456-84704457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs140602387	chr3:84704465-84704466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs377287069	chr3:84704471-84704472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs535949365	chr3:84704482-84704483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Melanoma	18172304	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
Acute myeloid leukemia	20729466	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	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
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Colorectal cancer	16272173	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Soft tissue tumor	16732325	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Neurodevelopmental disorder	22521361	CNVD
Medulloblastoma	16783165	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Mental retardation	17124404	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
craniofacial dysmorphism	21918468	CNVD
Schizophrenia	23813976	CNVD
Lung squamous cell carcinoma	22363434	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:84703000-84703200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr3:84703200-84711600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr3:84707000-84707800	Enhancers	H1 Cell Line	embryonic stem cell
4	chr3:84709000-84710000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr3:84709600-84710800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr3:84710400-84710800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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