Variant report

Variant	nsv460478
Chromosome Location	chr3:22598358-22602018
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 155 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:155 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1470668	chr3:22598358-22598359	Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs142081576	chr3:22598365-22598366	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs528904515	chr3:22598376-22598377	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs79736889	chr3:22598387-22598388	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs528090010	chr3:22598433-22598434	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs368150270	chr3:22598451-22598452	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs546574081	chr3:22598462-22598463	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs182614955	chr3:22598477-22598478	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs185274674	chr3:22598512-22598513	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs550611030	chr3:22598530-22598531	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs78141672	chr3:22598589-22598590	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs533132776	chr3:22598592-22598593	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs565686094	chr3:22598677-22598678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs147796379	chr3:22598682-22598683	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs199622085	chr3:22598738-22598739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs200547125	chr3:22598740-22598741	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs201929269	chr3:22598742-22598743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs56813184	chr3:22598747-22598748	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs13076690	chr3:22598750-22598751	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs73049154	chr3:22598764-22598765	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs568578598	chr3:22598772-22598773	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs535585262	chr3:22598774-22598775	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs556986658	chr3:22598775-22598776	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs79921380	chr3:22598814-22598815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs543670579	chr3:22598839-22598840	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs545953239	chr3:22598913-22598914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs558064535	chr3:22598919-22598920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs73049156	chr3:22598941-22598942	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs141178960	chr3:22598950-22598951	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs78863812	chr3:22598971-22598972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs190430839	chr3:22598986-22598987	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs74931526	chr3:22599007-22599008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs543996700	chr3:22599023-22599024	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs182592305	chr3:22599086-22599087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs146959338	chr3:22599111-22599112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs551583031	chr3:22599260-22599261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs138078887	chr3:22599275-22599276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs187626688	chr3:22599276-22599277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs80305431	chr3:22599284-22599285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs549217241	chr3:22599337-22599338	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs568364273	chr3:22599369-22599370	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs34688899	chr3:22599381-22599382	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs61449743	chr3:22599400-22599401	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs557225850	chr3:22599418-22599419	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs536289305	chr3:22599427-22599428	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs114530149	chr3:22599440-22599441	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs140841257	chr3:22599489-22599490	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs150161036	chr3:22599523-22599524	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs573520401	chr3:22599566-22599567	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs35202965	chr3:22599567-22599568	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	17327916	CNVD
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	18923191	CNVD
Colorectal cancer	21297112	CNVD
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	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
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
lymphocytic leukemia	21291569	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Esophageal cancer	20955586	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Squamous cell cancer	20885788	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Melanoma	20688739	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:22597400-22598400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr3:22597400-22598600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr3:22598400-22599800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr3:22598600-22599400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr3:22599400-22604600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr3:22599800-22604600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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