Variant report

Variant	nsv517265
Chromosome Location	chr3:54802351-54803521
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:45 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4955893	chr3:54802351-54802352	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs532150488	chr3:54802368-54802369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs137899414	chr3:54802370-54802371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs562855654	chr3:54802380-54802381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs548583137	chr3:54802384-54802385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs17054356	chr3:54802403-54802404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs182811061	chr3:54802422-54802423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs142114630	chr3:54802438-54802439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs188227020	chr3:54802496-54802497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs546386070	chr3:54802504-54802505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs150108333	chr3:54802544-54802545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs535159683	chr3:54802549-54802550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs7634169	chr3:54802552-54802553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs4563383	chr3:54802575-54802576	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs537444689	chr3:54802649-54802650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs55740073	chr3:54802678-54802679	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs578182000	chr3:54802680-54802681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs72874221	chr3:54802751-54802752	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs55685201	chr3:54802854-54802855	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs114756072	chr3:54802918-54802919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs543111020	chr3:54802920-54802921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs192997147	chr3:54802938-54802939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs531687047	chr3:54802947-54802948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs138290879	chr3:54802976-54802977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs534926958	chr3:54802984-54802985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs553213398	chr3:54803004-54803005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs72874222	chr3:54803025-54803026	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs2217229	chr3:54803064-54803065	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs546523381	chr3:54803077-54803078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs185206674	chr3:54803113-54803114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs535091897	chr3:54803120-54803121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs377153082	chr3:54803133-54803134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs535285983	chr3:54803157-54803158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs1366034	chr3:54803158-54803159	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs568871552	chr3:54803179-54803180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs187904827	chr3:54803185-54803186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs557468092	chr3:54803186-54803187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs573242952	chr3:54803212-54803213	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs571904065	chr3:54803280-54803281	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs577598362	chr3:54803282-54803283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs35130807	chr3:54803315-54803316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs192366986	chr3:54803409-54803410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs554522117	chr3:54803413-54803414	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs574258558	chr3:54803509-54803510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs4353779	chr3:54803521-54803522	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:83)

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
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	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
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	21785460	CNVD
Neuroblastoma	17327916	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
Renal cell carcinoma	18765545	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Prostate cancer	18632612	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Myelofibrosis	22110671	CNVD
Urothelial cell carcinoma	18451213	CNVD
Breast cancer	19490591	CNVD
Autism	18414403	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-small cell lung cancer	20864512	CNVD
Metastatic melanoma	17975146	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:54787600-54804600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr3:54794200-54806800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr3:54794400-54806600	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr3:54796200-54806000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr3:54798400-54803200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr3:54803200-54804000	Enhancers	NHDF-Ad	bronchial
7	chr3:54803200-54806200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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