Variant report

Variant	nsv522651
Chromosome Location	chr3:23181557-23188043
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 102 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:102 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145349657	chr3:23184623-23184624	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs553667866	chr3:23184657-23184658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs7643633	chr3:23184693-23184694	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs542030705	chr3:23184708-23184709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs115290003	chr3:23184709-23184710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs575169155	chr3:23184712-23184713	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs116028087	chr3:23184720-23184721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs114498408	chr3:23184759-23184760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs117336979	chr3:23184760-23184761	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs112733718	chr3:23184833-23184834	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs528130283	chr3:23184838-23184839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs539846685	chr3:23184844-23184845	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs116573082	chr3:23184856-23184857	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs529158849	chr3:23184878-23184879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs375964335	chr3:23184942-23184943	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs114601478	chr3:23184949-23184950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs149183666	chr3:23184964-23184965	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs532960704	chr3:23184999-23185000	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs552673097	chr3:23185058-23185059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs570847570	chr3:23185069-23185070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs180780360	chr3:23185072-23185073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs552910488	chr3:23185090-23185091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs544146371	chr3:23185097-23185098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs568430387	chr3:23185105-23185106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs577630319	chr3:23185108-23185109	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs535719784	chr3:23185113-23185114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs13317243	chr3:23185162-23185163	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs186482102	chr3:23185163-23185164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs207463056	chr3:23185183-23185184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs560644216	chr3:23185239-23185240	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs575470271	chr3:23185246-23185247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs188621516	chr3:23185277-23185278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs557882786	chr3:23185299-23185300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs199573626	chr3:23185319-23185320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs375874497	chr3:23185327-23185328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs540230232	chr3:23185354-23185355	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs561630521	chr3:23185394-23185395	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs529734417	chr3:23185399-23185400	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs540517197	chr3:23185414-23185415	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs529658057	chr3:23185418-23185419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs181730193	chr3:23185419-23185420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs544546407	chr3:23185422-23185423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs4411907	chr3:23185435-23185436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs4381964	chr3:23185440-23185441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs147965059	chr3:23185442-23185443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs551282146	chr3:23185446-23185447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs4478098	chr3:23185450-23185451	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs186084592	chr3:23185477-23185478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs190453107	chr3:23185483-23185484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs568144521	chr3:23185484-23185485	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
Melanoma	20688739	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:23184600-23186400	Enhancers	Dnd41	blood
2	chr3:23184800-23185200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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