Variant report

Variant	nsv526011
Chromosome Location	chr3:22337031-22338292
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 65 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:65 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1352869	chr3:22337031-22337032	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs573850195	chr3:22337116-22337117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs541871076	chr3:22337139-22337140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs191217194	chr3:22337162-22337163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs573344191	chr3:22337173-22337174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs545934689	chr3:22337174-22337175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs182171678	chr3:22337175-22337176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs200166642	chr3:22337179-22337180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs141758636	chr3:22337192-22337193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs372143252	chr3:22337204-22337205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs146132914	chr3:22337225-22337226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs570492285	chr3:22337260-22337261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs535310790	chr3:22337278-22337279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs529551054	chr3:22337286-22337287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs550308327	chr3:22337330-22337331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs187146979	chr3:22337341-22337342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs554681689	chr3:22337342-22337343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs376400013	chr3:22337345-22337346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs532780029	chr3:22337350-22337351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs533029313	chr3:22337357-22337358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs568411012	chr3:22337361-22337362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs551534289	chr3:22337382-22337383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs566548911	chr3:22337429-22337430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs533996850	chr3:22337448-22337449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs555563497	chr3:22337471-22337472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs75969756	chr3:22337524-22337525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs191584720	chr3:22337549-22337550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs556176619	chr3:22337558-22337559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs7429312	chr3:22337587-22337588	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs138889268	chr3:22337598-22337599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs183876673	chr3:22337643-22337644	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs142896625	chr3:22337648-22337649	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs544851754	chr3:22337674-22337675	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs147450070	chr3:22337679-22337680	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs562262726	chr3:22337683-22337684	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs370858671	chr3:22337698-22337699	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs188712309	chr3:22337700-22337701	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs139263365	chr3:22337729-22337730	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs563024185	chr3:22337741-22337742	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs532982781	chr3:22337748-22337749	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs551365556	chr3:22337803-22337804	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs192818874	chr3:22337823-22337824	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs116999803	chr3:22337841-22337842	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs62247265	chr3:22337845-22337846	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs149585290	chr3:22337871-22337872	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs542256019	chr3:22337875-22337876	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs550078833	chr3:22337899-22337900	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs185687648	chr3:22337918-22337919	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs144301139	chr3:22337971-22337972	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs148770172	chr3:22337981-22337982	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
Bipolar disorder	19114987	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:22335400-22337600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr3:22337600-22337800	Strong transcription	Pancreatic Islets	Pancreatic Islet
3	chr3:22337800-22338200	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
4	chr3:22337800-22338400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr3:22338000-22339200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr3:22338200-22339800	Weak transcription	Pancreatic Islets	Pancreatic Islet

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