Variant report

Variant	nsv1029912
Chromosome Location	chr7:11957445-11977534
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:11961967..11964021-chr7:11967210..11969257,2	K562	blood:
2	chr7:11961967..11964021-chr7:11967210..11969257,2	K562	blood:

Extended variants
information (count: 100 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:100 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558328892	chr7:11969818-11969819	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs148403039	chr7:11969993-11969994	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs528974739	chr7:11970007-11970008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs575514003	chr7:11970008-11970009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs10464198	chr7:11970052-11970053	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs192736214	chr7:11970063-11970064	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs528085288	chr7:11970095-11970096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs554944876	chr7:11970096-11970097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs574768120	chr7:11970108-11970109	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs540294809	chr7:11970116-11970117	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs537644021	chr7:11970130-11970131	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs142487429	chr7:11970165-11970166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs537790901	chr7:11970168-11970169	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs550749153	chr7:11970188-11970189	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs535327256	chr7:11970192-11970193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs567549372	chr7:11970212-11970213	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs560556299	chr7:11970243-11970244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs536320253	chr7:11970258-11970259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs553057814	chr7:11970311-11970312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs557569440	chr7:11970313-11970314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs34018813	chr7:11970323-11970324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs111577110	chr7:11970402-11970403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs184404853	chr7:11970428-11970429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs551639965	chr7:11970475-11970476	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs35422143	chr7:11970482-11970483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs189363368	chr7:11970509-11970510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs543727590	chr7:11970513-11970514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs370306429	chr7:11970514-11970515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs12537849	chr7:11970559-11970560	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs78866335	chr7:11970609-11970610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs181848138	chr7:11970623-11970624	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs534049518	chr7:11970631-11970632	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs151335837	chr7:11970634-11970635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs562593150	chr7:11970638-11970639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs13232267	chr7:11970651-11970652	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs186103408	chr7:11970706-11970707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs189340136	chr7:11970748-11970749	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs114875174	chr7:11970749-11970750	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs181448945	chr7:11970757-11970758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs573946092	chr7:11970794-11970795	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs372853678	chr7:11970855-11970856	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs7794113	chr7:11970874-11970875	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs56835896	chr7:11970886-11970887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs536448506	chr7:11970904-11970905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs141838755	chr7:11970922-11970923	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs74408189	chr7:11970954-11970955	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs116942394	chr7:11970980-11970981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs558658214	chr7:11971000-11971001	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs34438546	chr7:11971043-11971044	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs575615723	chr7:11971060-11971061	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:11969800-11971400	Enhancers	Hela-S3	cervix
2	chr7:11971000-11971800	Active TSS	A549	lung
3	chr7:11975800-11976200	Enhancers	Fetal Lung	lung

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