Variant report

Variant	nsv433037
Chromosome Location	chr7:19513560-19533836
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 184 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:184 , 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	rs112571772	chr7:19519218-19519219	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs373255258	chr7:19519235-19519236	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs187570887	chr7:19519251-19519252	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs146697680	chr7:19519279-19519280	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs531643442	chr7:19519299-19519300	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs549797246	chr7:19519308-19519309	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs571465956	chr7:19519333-19519334	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs532152409	chr7:19519345-19519346	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs551495943	chr7:19519353-19519354	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs192056053	chr7:19519359-19519360	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs533523743	chr7:19519365-19519366	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs182839589	chr7:19519382-19519383	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs555738847	chr7:19519390-19519391	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs113115849	chr7:19519423-19519424	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs150302170	chr7:19519452-19519453	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs138074494	chr7:19519455-19519456	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs60649499	chr7:19519459-19519460	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs545631860	chr7:19519495-19519496	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs145953063	chr7:19519505-19519506	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs7788312	chr7:19519530-19519531	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs186025937	chr7:19519531-19519532	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs560979690	chr7:19519540-19519541	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs142811911	chr7:19519568-19519569	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs543727425	chr7:19519579-19519580	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs55745073	chr7:19519591-19519592	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs386710950	chr7:19519594-19519595	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs565491890	chr7:19519595-19519596	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs113355670	chr7:19519596-19519597	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs572436201	chr7:19519600-19519601	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs555854595	chr7:19519605-19519606	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs56129840	chr7:19519632-19519633	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs541502474	chr7:19519639-19519640	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs561562384	chr7:19519645-19519646	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs112307558	chr7:19519665-19519666	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs550111578	chr7:19519666-19519667	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs571989920	chr7:19519674-19519675	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs539288636	chr7:19519703-19519704	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs543320823	chr7:19519718-19519719	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs370960401	chr7:19519724-19519725	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs75326291	chr7:19519735-19519736	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs368307923	chr7:19519736-19519737	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs80180342	chr7:19519759-19519760	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs190095819	chr7:19519780-19519781	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs141828882	chr7:19519849-19519850	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs532446386	chr7:19519853-19519854	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs79019501	chr7:19519858-19519859	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs543067662	chr7:19519880-19519881	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs113520270	chr7:19519887-19519888	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs561614046	chr7:19519915-19519916	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs550371177	chr7:19519970-19519971	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:19519200-19520000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr7:19527800-19528200	ZNF genes & repeats	Pancreas	Pancrea
3	chr7:19528800-19529000	ZNF genes & repeats	Pancreas	Pancrea
4	chr7:19529200-19529400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
5	chr7:19530000-19531600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr7:19531800-19532200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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