Variant report

Variant	nsv818155
Chromosome Location	chr3:86732817-86752414
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 325 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:325 , 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	rs6799589	chr3:86742415-86742416	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs558498636	chr3:86742435-86742436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs570318879	chr3:86742468-86742469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs561998778	chr3:86742486-86742487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs537666113	chr3:86742494-86742495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs6799519	chr3:86742496-86742497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs149056993	chr3:86742497-86742498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs11922358	chr3:86742543-86742544	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs553189314	chr3:86742569-86742570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs77185383	chr3:86742570-86742571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs544961394	chr3:86742614-86742615	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs564043119	chr3:86742669-86742670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs531471191	chr3:86742714-86742715	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs528053444	chr3:86742760-86742761	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs369999837	chr3:86742761-86742762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs138602554	chr3:86742769-86742770	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs35808510	chr3:86742802-86742803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs142908951	chr3:86742805-86742806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs565601099	chr3:86742836-86742837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs532964141	chr3:86742838-86742839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs551371393	chr3:86742897-86742898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs548306715	chr3:86742924-86742925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs187553708	chr3:86742927-86742928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs549390505	chr3:86742932-86742933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs59154063	chr3:86742958-86742959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs141765325	chr3:86742959-86742960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs397798987	chr3:86742961-86742962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs558677190	chr3:86742971-86742972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs534895009	chr3:86742999-86743000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs575343732	chr3:86743045-86743046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs553441321	chr3:86743069-86743070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs146253988	chr3:86743072-86743073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs577999178	chr3:86743083-86743084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs538668798	chr3:86743127-86743128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs556899108	chr3:86743130-86743131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs564486938	chr3:86743150-86743151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs543976346	chr3:86743152-86743153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs560901490	chr3:86743204-86743205	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs533425011	chr3:86743208-86743209	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs191332950	chr3:86743254-86743255	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs376709886	chr3:86743281-86743282	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs543338194	chr3:86743300-86743301	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs561830125	chr3:86743301-86743302	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs183520466	chr3:86743313-86743314	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs568121699	chr3:86743372-86743373	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs147423635	chr3:86743405-86743406	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs559422547	chr3:86743414-86743415	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs543975349	chr3:86743416-86743417	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs34954807	chr3:86743425-86743426	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs533027688	chr3:86743427-86743428	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
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
small cell lung cancer	20016488	CNVD
Neurodevelopmental disorder	22521361	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
Cancer	20164920	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:86742400-86742600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr3:86742600-86742800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr3:86742800-86743600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr3:86743200-86743800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr3:86743200-86744000	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr3:86743400-86743600	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr3:86743400-86743600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
8	chr3:86743600-86744400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr3:86743600-86744800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr3:86743800-86749800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr3:86744400-86745000	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr3:86744400-86745400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr3:86744800-86745000	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr3:86745000-86745800	Active TSS	H1 Cell Line	embryonic stem cell
15	chr3:86745000-86746000	Active TSS	ES-I3 Cell Line	embryonic stem cell
16	chr3:86745000-86746000	Active TSS	H9 Cell Line	embryonic stem cell
17	chr3:86745000-86746000	Active TSS	HUES48 Cell Line	embryonic stem cell
18	chr3:86745000-86746000	Active TSS	HUES6 Cell Line	embryonic stem cell
19	chr3:86745000-86746200	Active TSS	iPS-15b Cell Line	embryonic stem cell
20	chr3:86745200-86746000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
21	chr3:86745400-86745600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr3:86745400-86745800	Active TSS	iPS-18 Cell Line	embryonic stem cell
23	chr3:86746800-86747000	Enhancers	ES-I3 Cell Line	embryonic stem cell

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