Variant report

Variant	nsv981832
Chromosome Location	chr7:19620625-19629551
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 67 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:67 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542299067	chr7:19623021-19623022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs183835253	chr7:19623064-19623065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs10273311	chr7:19623068-19623069	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs566825259	chr7:19623069-19623070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs10228147	chr7:19623091-19623092	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs189857825	chr7:19623095-19623096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs550097106	chr7:19623105-19623106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs555223490	chr7:19623143-19623144	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs114706902	chr7:19623153-19623154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs369273931	chr7:19623175-19623176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs537683105	chr7:19623221-19623222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs575848317	chr7:19623267-19623268	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs4721793	chr7:19623268-19623269	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs377653691	chr7:19623274-19623275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs555030399	chr7:19623294-19623295	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs544575503	chr7:19623351-19623352	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs4721794	chr7:19623358-19623359	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs540223301	chr7:19623367-19623368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs542713410	chr7:19623386-19623387	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs560868658	chr7:19623449-19623450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs28617207	chr7:19623465-19623466	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs145659999	chr7:19623477-19623478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs373126219	chr7:19623495-19623496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs533691396	chr7:19623499-19623500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs551757383	chr7:19623505-19623506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs116356237	chr7:19623523-19623524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs527729848	chr7:19623562-19623563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs1074858	chr7:19623571-19623572	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs568681769	chr7:19623636-19623637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs143575348	chr7:19623637-19623638	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs1989540	chr7:19623643-19623644	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs571171981	chr7:19623699-19623700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs114417804	chr7:19623807-19623808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs545229877	chr7:19623832-19623833	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs180843453	chr7:19623842-19623843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs76406811	chr7:19623859-19623860	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs542298726	chr7:19623925-19623926	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs2109874	chr7:19623940-19623941	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs576087904	chr7:19623944-19623945	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs2109873	chr7:19623971-19623972	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs118023458	chr7:19623995-19623996	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs529832395	chr7:19625634-19625635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs542033514	chr7:19625656-19625657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs563546521	chr7:19625661-19625662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs140135104	chr7:19625671-19625672	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs2058422	chr7:19625676-19625677	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs144024260	chr7:19625678-19625679	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs374400316	chr7:19625694-19625695	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs528136411	chr7:19625728-19625729	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs546369003	chr7:19625796-19625797	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	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
Pleomorphic liposarcoma	18784837	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Abnormal phenotypes	18644119	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Cancer	21183584	CNVD
Autism	20808228	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:19623000-19624000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr7:19625600-19626200	Enhancers	Muscle Satellite Cultured Cells	--

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