Variant report

Variant	nsv8066
Chromosome Location	chr7:19533764-19538962
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 442 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:442 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553258102	chr7:19534405-19534406	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs139816009	chr7:19534407-19534408	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs74551689	chr7:19534413-19534414	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs372903079	chr7:19534414-19534415	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs71530658	chr7:19534415-19534416	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs143797415	chr7:19534420-19534421	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs71524299	chr7:19534423-19534424	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs71530659	chr7:19534425-19534426	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs540191080	chr7:19534431-19534432	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs190371100	chr7:19534433-19534434	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs79862509	chr7:19534439-19534440	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs76963261	chr7:19534440-19534441	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs71530660	chr7:19534441-19534442	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs62446641	chr7:19534446-19534447	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs62446642	chr7:19534449-19534450	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs373605913	chr7:19534451-19534452	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs552241251	chr7:19534457-19534458	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs77545137	chr7:19534465-19534466	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs78220724	chr7:19534466-19534467	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs71530661	chr7:19534467-19534468	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs62446643	chr7:19534472-19534473	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs62446644	chr7:19534475-19534476	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs201550774	chr7:19534477-19534478	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs546560175	chr7:19534481-19534482	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs568674443	chr7:19534482-19534483	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs536130291	chr7:19534483-19534484	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs557319717	chr7:19534484-19534485	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs75180108	chr7:19534491-19534492	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs77960027	chr7:19534492-19534493	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs76210452	chr7:19534493-19534494	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs80110400	chr7:19534498-19534499	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs74189616	chr7:19534501-19534502	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs111901460	chr7:19534504-19534505	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs572950030	chr7:19534507-19534508	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs115874836	chr7:19534509-19534510	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs555328381	chr7:19534510-19534511	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs372596543	chr7:19534511-19534512	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs573882645	chr7:19534513-19534514	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs76977100	chr7:19534517-19534518	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs562579910	chr7:19534518-19534519	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs77514345	chr7:19534519-19534520	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs74185252	chr7:19534524-19534525	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs544754224	chr7:19534533-19534534	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs564262476	chr7:19534535-19534536	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs528530397	chr7:19534536-19534537	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs75179495	chr7:19534541-19534542	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs546623204	chr7:19534542-19534543	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs71878476	chr7:19534543-19534544	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs568419125	chr7:19534558-19534559	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs529600514	chr7:19534559-19534560	ZNF genes & repeats Active TSS	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:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:19534400-19534800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:19534400-19534800	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
3	chr7:19534400-19535000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr7:19534800-19539400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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