Variant report

Variant	nsv508223
Chromosome Location	chr3:68603630-68645355
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 236 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:236 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs72106943	chr3:68605002-68605003	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs36021206	chr3:68605051-68605052	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs182349293	chr3:68605057-68605058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs73835307	chr3:68605061-68605062	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs549386043	chr3:68605071-68605072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs551269042	chr3:68605121-68605122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs571060319	chr3:68605124-68605125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs537295488	chr3:68605146-68605147	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs187789028	chr3:68605147-68605148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs576511662	chr3:68605157-68605158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs369690111	chr3:68605159-68605160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs199513256	chr3:68605264-68605265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs574766521	chr3:68605305-68605306	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs7647115	chr3:68605368-68605369	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs572483811	chr3:68605410-68605411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs73835308	chr3:68605428-68605429	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs192546047	chr3:68605461-68605462	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs578103580	chr3:68605492-68605493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs74771752	chr3:68605508-68605509	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs10576290	chr3:68605536-68605537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs563214130	chr3:68605573-68605574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs528952987	chr3:68605576-68605577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs548681795	chr3:68605598-68605599	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs35966038	chr3:68605751-68605752	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs35522170	chr3:68605766-68605767	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs142653330	chr3:68605796-68605797	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs184492924	chr3:68605797-68605798	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs13321458	chr3:68610030-68610031	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs188345845	chr3:68610170-68610171	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs532539999	chr3:68610174-68610175	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs181822206	chr3:68610216-68610217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs563234387	chr3:68610245-68610246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs17246157	chr3:68610324-68610325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs548825640	chr3:68610350-68610351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs568689407	chr3:68610365-68610366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs185701658	chr3:68610429-68610430	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs1511888	chr3:68610451-68610452	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs17047842	chr3:68610525-68610526	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs570351603	chr3:68610567-68610568	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs530741728	chr3:68610571-68610572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs34987289	chr3:68610573-68610574	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs190702106	chr3:68610598-68610599	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs569963223	chr3:68610627-68610628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs17047843	chr3:68610632-68610633	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs17047845	chr3:68610660-68610661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs186986684	chr3:68610663-68610664	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs17047847	chr3:68610677-68610678	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs190087237	chr3:68610699-68610700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs181422632	chr3:68610714-68610715	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs9835386	chr3:68610847-68610848	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:85)

Disease	PMID	Source
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
Acute myeloid leukemia	20729466	CNVD
Glioblastoma multiforme	21080181	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
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	21251322	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
Squamous cell cancer	20885788	CNVD
Breast cancer	16608533	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	19490591	CNVD
Autism	18414403	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-small cell lung cancer	20864512	CNVD
Metastatic melanoma	17975146	CNVD
Breast cancer	21509527	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Autism	22102821	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	21062444	CNVD
Prostate cancer	17217626	CNVD
Urothelial cell carcinoma	18451213	CNVD
Alzheimer''s disease	22166940	CNVD
Mental retardation	20848658	CNVD
Breast cancer	17142309	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Urothelial carcinoma	21177765	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:68605000-68605800	Enhancers	iPS-20b Cell Line	embryonic stem cell
2	chr3:68610000-68612000	Enhancers	Fetal Lung	lung
3	chr3:68620000-68620600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr3:68620600-68620800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr3:68620800-68622400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr3:68622400-68622600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr3:68624400-68625000	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr3:68624600-68625200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr3:68628200-68628400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived

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