Variant report

Variant	nsv528981
Chromosome Location	chr3:22640648-22644920
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 167 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:167 , 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	rs1599959	chr3:22640648-22640649	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs577165718	chr3:22640658-22640659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs76047551	chr3:22640694-22640695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs1599958	chr3:22640746-22640747	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs564211759	chr3:22640770-22640771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs34081816	chr3:22640781-22640782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs113592928	chr3:22640796-22640797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs76307929	chr3:22640805-22640806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs532986359	chr3:22640813-22640814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs543099881	chr3:22640830-22640831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs561370352	chr3:22640880-22640881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs546278726	chr3:22640906-22640907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs79779578	chr3:22640910-22640911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs549921439	chr3:22640954-22640955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs565255902	chr3:22640957-22640958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs78705197	chr3:22640963-22640964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs555323313	chr3:22640968-22640969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs193159043	chr3:22640977-22640978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs565656560	chr3:22641035-22641036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs536002163	chr3:22641043-22641044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs115777772	chr3:22641113-22641114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs184373654	chr3:22641119-22641120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs73822669	chr3:22641120-22641121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs558750845	chr3:22641133-22641134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs577232481	chr3:22641151-22641152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs534893555	chr3:22641160-22641161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs79439758	chr3:22641164-22641165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs79807206	chr3:22641182-22641183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs528915573	chr3:22641188-22641189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs189618358	chr3:22641196-22641197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs561443044	chr3:22641248-22641249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs576094264	chr3:22641256-22641257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs76148952	chr3:22641324-22641325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs11129082	chr3:22641376-22641377	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs532704015	chr3:22641402-22641403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs569081872	chr3:22641431-22641432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs9854909	chr3:22641445-22641446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs559129713	chr3:22641448-22641449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs35695615	chr3:22641450-22641451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs529694224	chr3:22641477-22641478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs192507530	chr3:22641510-22641511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs71316090	chr3:22641518-22641519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs569780346	chr3:22641562-22641563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs530593217	chr3:22641563-22641564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs552428507	chr3:22641611-22641612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs77266649	chr3:22641616-22641617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs541398370	chr3:22641617-22641618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs564574986	chr3:22641618-22641619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs538029197	chr3:22641623-22641624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs368855039	chr3:22641625-22641626	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:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:22636200-22648200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr3:22644800-22646200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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