Variant report

Variant	nsv1014636
Chromosome Location	chr3:78464695-78491410
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 318 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:318 , 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	rs577082022	chr3:78470434-78470435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs184248265	chr3:78470444-78470445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs559576550	chr3:78470445-78470446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs573000079	chr3:78470522-78470523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs541847112	chr3:78470535-78470536	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs146141818	chr3:78470539-78470540	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs561856910	chr3:78470544-78470545	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs17298420	chr3:78470679-78470680	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs544223197	chr3:78470713-78470714	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs564290307	chr3:78470744-78470745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs9882111	chr3:78470746-78470747	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs548337858	chr3:78470751-78470752	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs567141663	chr3:78470809-78470810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs4350886	chr3:78470832-78470833	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs562063885	chr3:78470841-78470842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs527934484	chr3:78470851-78470852	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs568180545	chr3:78470866-78470867	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs537108000	chr3:78470869-78470870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs557002140	chr3:78470886-78470887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs376914218	chr3:78470901-78470902	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs547088510	chr3:78470926-78470927	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs570421863	chr3:78470928-78470929	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs1512491	chr3:78470954-78470955	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs553033768	chr3:78470955-78470956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs549826289	chr3:78471003-78471004	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs4462909	chr3:78471042-78471043	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs555116498	chr3:78471091-78471092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs189356720	chr3:78471109-78471110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs544336056	chr3:78471115-78471116	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs561992618	chr3:78471120-78471121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs1512492	chr3:78471190-78471191	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs370821387	chr3:78471197-78471198	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs4542984	chr3:78471219-78471220	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs73111843	chr3:78471269-78471270	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs529582771	chr3:78471301-78471302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs115496699	chr3:78471304-78471305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs569505933	chr3:78471308-78471309	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs76335046	chr3:78471311-78471312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs531919024	chr3:78471343-78471344	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs180901291	chr3:78471376-78471377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs550449341	chr3:78471404-78471405	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs570517132	chr3:78471415-78471416	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs75880279	chr3:78471423-78471424	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs550082095	chr3:78471432-78471433	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs552887728	chr3:78471441-78471442	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs566451862	chr3:78471446-78471447	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs186311342	chr3:78471482-78471483	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs543509901	chr3:78471532-78471533	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs140184266	chr3:78471544-78471545	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs555228930	chr3:78471555-78471556	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
Acute myeloid leukemia	20729466	CNVD
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
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
Acute myeloid leukemia	21251322	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
Autism	22102821	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Splenic marginal zone lymphoma	21957467	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
Urothelial carcinoma	21177765	CNVD
Colorectal cancer	16912164	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:78470400-78471400	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr3:78470400-78471400	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr3:78470400-78471400	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr3:78470400-78471600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr3:78470600-78472000	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr3:78471000-78472400	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr3:78471400-78472600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr3:78472400-78473200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr3:78473000-78473200	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr3:78473200-78473400	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr3:78475400-78476000	Enhancers	Pancreatic Islets	Pancreatic Islet
12	chr3:78486800-78487000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr3:78487200-78490600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr3:78490600-78491200	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr3:78491200-78496200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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