Variant report

Variant	nsv590018
Chromosome Location	chr3:28812010-28816082
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 81 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:81 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11920283	chr3:28812010-28812011	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs187042179	chr3:28812035-28812036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs535978120	chr3:28812111-28812112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs78424059	chr3:28812131-28812132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs192381497	chr3:28812137-28812138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs556205930	chr3:28812188-28812189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs4560255	chr3:28812259-28812260	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs141417003	chr3:28812345-28812346	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs559263589	chr3:28812350-28812351	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs6764223	chr3:28812397-28812398	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs147691894	chr3:28812412-28812413	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs571997310	chr3:28812417-28812418	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs112144762	chr3:28812422-28812423	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs56706291	chr3:28812423-28812424	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs201489087	chr3:28812424-28812425	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs201086728	chr3:28812427-28812428	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs534712459	chr3:28812450-28812451	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs554408226	chr3:28812468-28812469	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs558462195	chr3:28812472-28812473	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs574357011	chr3:28812482-28812483	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs61009350	chr3:28812508-28812509	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs182096337	chr3:28812516-28812517	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs6764436	chr3:28812530-28812531	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs545553684	chr3:28812531-28812532	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs28803849	chr3:28812537-28812538	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs6775696	chr3:28812560-28812561	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs115454595	chr3:28812626-28812627	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs377533552	chr3:28812676-28812677	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs185343779	chr3:28812705-28812706	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs189996763	chr3:28812706-28812707	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs9822685	chr3:28812720-28812721	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs182663177	chr3:28812721-28812722	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs570320764	chr3:28812746-28812747	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs532855830	chr3:28812758-28812759	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs386659666	chr3:28812759-28812760	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs531853173	chr3:28812786-28812787	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs552641356	chr3:28812809-28812810	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs115026448	chr3:28812815-28812816	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs547420232	chr3:28812821-28812822	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs113637368	chr3:28812918-28812919	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs75039374	chr3:28812924-28812925	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs10460988	chr3:28812937-28812938	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs528360676	chr3:28812943-28812944	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs565433408	chr3:28812962-28812963	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs34067237	chr3:28812965-28812966	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs370064779	chr3:28813008-28813009	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs556548624	chr3:28813025-28813026	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs576679507	chr3:28813093-28813094	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs141505836	chr3:28813120-28813121	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs188386474	chr3:28813136-28813137	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
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
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
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
Squamous cell cancer	20885788	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Acute myeloid leukemia	21251322	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	16618734	CNVD
Cancer	20164919	CNVD
Developmental delay	21147756	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:28798400-28812200	Weak transcription	Aorta	Aorta
2	chr3:28811800-28812200	Weak transcription	Pancreas	Pancrea
3	chr3:28812200-28813800	ZNF genes & repeats	Aorta	Aorta

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