Variant report

Variant	nsv606261
Chromosome Location	chr7:13584982-13591129
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 92 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:92 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12699527	chr7:13584982-13584983	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs564098979	chr7:13584997-13584998	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs532929185	chr7:13585048-13585049	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs117474804	chr7:13585055-13585056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs528442276	chr7:13585098-13585099	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs111983694	chr7:13585113-13585114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs564966184	chr7:13585133-13585134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs74656797	chr7:13585136-13585137	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs530708317	chr7:13585165-13585166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs550026242	chr7:13585174-13585175	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs537810860	chr7:13585226-13585227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs569778533	chr7:13585237-13585238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs529086993	chr7:13585238-13585239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs545690804	chr7:13585245-13585246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs535463592	chr7:13585262-13585263	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs144405337	chr7:13585265-13585266	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs145393369	chr7:13585318-13585319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs535050547	chr7:13585400-13585401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs558414812	chr7:13585426-13585427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs578131508	chr7:13585449-13585450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs148792651	chr7:13585459-13585460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs561023518	chr7:13585470-13585471	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs564928734	chr7:13585476-13585477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs375581407	chr7:13585478-13585479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs561130057	chr7:13585513-13585514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs570168604	chr7:13585516-13585517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs17167217	chr7:13585528-13585529	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs142471167	chr7:13585611-13585612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs559431852	chr7:13585646-13585647	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs565566885	chr7:13585650-13585651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs372540324	chr7:13585664-13585665	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs551436574	chr7:13585680-13585681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs545001517	chr7:13585685-13585686	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs565156482	chr7:13585707-13585708	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs570957530	chr7:13585801-13585802	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs150929693	chr7:13585802-13585803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs10950471	chr7:13585805-13585806	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs529396570	chr7:13585807-13585808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs549058788	chr7:13585835-13585836	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs565772690	chr7:13585847-13585848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs200782389	chr7:13585871-13585872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs534997617	chr7:13585900-13585901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs142001345	chr7:13585907-13585908	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs370137273	chr7:13585945-13585946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs36068685	chr7:13585967-13585968	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs200265684	chr7:13585996-13585997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs563697955	chr7:13586027-13586028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs557542552	chr7:13586036-13586037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs7789334	chr7:13586046-13586047	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs536386927	chr7:13586179-13586180	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	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
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Myelofibrosis	22110671	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:13584600-13586400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr7:13585200-13585400	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr7:13585600-13586200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr7:13590600-13591400	Enhancers	Psoas Muscle	Psoas
5	chr7:13590800-13591600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:13590800-13592000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr7:13591000-13591800	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr7:13591000-13592000	Enhancers	HSMMtube	muscle

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