Variant report

Variant	nsv518249
Chromosome Location	chr7:12059806-12061061
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:40 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs769111	chr7:12059806-12059807	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
2	rs769110	chr7:12059927-12059928	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs527269123	chr7:12059967-12059968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs80042314	chr7:12060050-12060051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs561553543	chr7:12060061-12060062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs183743862	chr7:12060070-12060071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs548096812	chr7:12060080-12060081	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs189006483	chr7:12060097-12060098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs79144156	chr7:12060099-12060100	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs550440586	chr7:12060108-12060109	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs10241146	chr7:12060125-12060126	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs535595865	chr7:12060129-12060130	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs373533688	chr7:12060198-12060199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs202138351	chr7:12060202-12060203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs555696241	chr7:12060222-12060223	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs4512288	chr7:12060369-12060370	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs534723723	chr7:12060419-12060420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs146949598	chr7:12060465-12060466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs560146566	chr7:12060559-12060560	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs372585605	chr7:12060582-12060583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs576767613	chr7:12060592-12060593	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs34915652	chr7:12060597-12060598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs545553564	chr7:12060627-12060628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs370653079	chr7:12060641-12060642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs532347594	chr7:12060682-12060683	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs552122537	chr7:12060694-12060695	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs555942656	chr7:12060725-12060726	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs563310332	chr7:12060762-12060763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs137919426	chr7:12060772-12060773	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs67026121	chr7:12060792-12060793	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs200482277	chr7:12060807-12060808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs2058646	chr7:12060858-12060859	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs143409734	chr7:12060868-12060869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs541076131	chr7:12060906-12060907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs180908479	chr7:12060998-12060999	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs2058645	chr7:12061009-12061010	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs550366872	chr7:12061013-12061014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs570167349	chr7:12061040-12061041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs2058644	chr7:12061045-12061046	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs2058643	chr7:12061061-12061062	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:86)

Disease	PMID	Source
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Hirschsprung''s Disease	21712996	CNVD
Glioblastoma multiforme	22286061	CNVD
Non-small cell lung cancer	21829676	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Medulloblastoma	17653508	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	19242612	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	18194544	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Autism	22495309	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Glioblastoma multiforme	17002787	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Multiple myeloma	17550852	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12059600-12060000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr7:12059800-12062400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr7:12061000-12061600	Enhancers	Fetal Lung	lung

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