Variant report

Variant	nsv528671
Chromosome Location	chr7:13791263-13794203
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 123 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:123 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2158800	chr7:13791263-13791264	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs534745399	chr7:13791352-13791353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs184162347	chr7:13791360-13791361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs117727437	chr7:13791399-13791400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs188713747	chr7:13791433-13791434	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs192395762	chr7:13791446-13791447	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs559943676	chr7:13791469-13791470	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs566357212	chr7:13791512-13791513	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs530848466	chr7:13791648-13791649	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs79307914	chr7:13791749-13791750	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs576613056	chr7:13791752-13791753	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs551986875	chr7:13791809-13791810	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs571392641	chr7:13791827-13791828	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs537165059	chr7:13791854-13791855	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs376193054	chr7:13791896-13791897	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs556983796	chr7:13791936-13791937	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs146271985	chr7:13791969-13791970	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs536198404	chr7:13791974-13791975	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs553040022	chr7:13791976-13791977	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs139045279	chr7:13791998-13791999	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs143073390	chr7:13792006-13792007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs562954637	chr7:13792007-13792008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs558312123	chr7:13792014-13792015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs531616873	chr7:13792018-13792019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs79199925	chr7:13792104-13792105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs548603077	chr7:13792128-13792129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs183101551	chr7:13792163-13792164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs73679183	chr7:13792165-13792166	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs543007748	chr7:13792174-13792175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs148543069	chr7:13792178-13792179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs528781517	chr7:13792179-13792180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs540024052	chr7:13792229-13792230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs187350741	chr7:13792249-13792250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs376411498	chr7:13792265-13792266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs528018345	chr7:13792270-13792271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs571891798	chr7:13792298-13792299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs150594810	chr7:13792308-13792309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs531080988	chr7:13792310-13792311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs548091082	chr7:13792334-13792335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs141941443	chr7:13792350-13792351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs567344493	chr7:13792364-13792365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs35093616	chr7:13792367-13792368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs67682604	chr7:13792369-13792370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs376808051	chr7:13792373-13792374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs368985330	chr7:13792374-13792375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs398066638	chr7:13792376-13792377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs372122335	chr7:13792395-13792396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs6949606	chr7:13792423-13792424	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs113653995	chr7:13792436-13792437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs6949771	chr7:13792450-13792451	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:81)

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
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:13789400-13791400	Weak transcription	Fetal Brain Male	brain
2	chr7:13791000-13797400	Weak transcription	Fetal Lung	lung
3	chr7:13791400-13792000	Enhancers	Fetal Brain Male	brain

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