Variant report

Variant	nsv1003040
Chromosome Location	chr3:21798340-21809266
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 239 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:239 , 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	rs7641603	chr3:21798340-21798341	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs370524126	chr3:21798350-21798351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs114932674	chr3:21798352-21798353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs554910569	chr3:21798379-21798380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs576568910	chr3:21798386-21798387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs185940952	chr3:21798408-21798409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs189947537	chr3:21798411-21798412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs143938517	chr3:21798433-21798434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs542764168	chr3:21798439-21798440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs7653345	chr3:21798441-21798442	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs541399969	chr3:21798445-21798446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs73140824	chr3:21798452-21798453	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs9819548	chr3:21798543-21798544	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs35619982	chr3:21798546-21798547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs4416399	chr3:21798573-21798574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs4327413	chr3:21798589-21798590	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs181209683	chr3:21798598-21798599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs369170535	chr3:21798610-21798611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs372488097	chr3:21798612-21798613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs67034403	chr3:21798613-21798614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs115596048	chr3:21798626-21798627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs9681905	chr3:21798629-21798630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs61226426	chr3:21798631-21798632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs140868081	chr3:21798632-21798633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs114101319	chr3:21798637-21798638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs13093500	chr3:21798647-21798648	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs527655851	chr3:21798653-21798654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs12715018	chr3:21798671-21798672	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs570976015	chr3:21798682-21798683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs538257274	chr3:21798685-21798686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs187023887	chr3:21798686-21798687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs12715019	chr3:21798717-21798718	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs536584520	chr3:21798726-21798727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs190517876	chr3:21798727-21798728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs576586753	chr3:21798734-21798735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs537613131	chr3:21798788-21798789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs12633290	chr3:21798791-21798792	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs577367528	chr3:21798792-21798793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs2878426	chr3:21798831-21798832	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs559531662	chr3:21798832-21798833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs371739523	chr3:21798836-21798837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs574763461	chr3:21798845-21798846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs183389080	chr3:21798850-21798851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs561208690	chr3:21798854-21798855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs12630540	chr3:21798881-21798882	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs2335438	chr3:21798882-21798883	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs564640968	chr3:21798888-21798889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs557801445	chr3:21798911-21798912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs12630569	chr3:21798913-21798914	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs4349519	chr3:21798915-21798916	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:74)

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
Developmental delay	21147756	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Melanoma	20688739	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:21793400-21801600	Weak transcription	Fetal Lung	lung
2	chr3:21801600-21802000	Enhancers	Fetal Lung	lung

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