Variant report

Variant	nsv981802
Chromosome Location	chr7:13796849-13801976
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 174 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:174 , 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	rs201524090	chr7:13796873-13796874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs533209204	chr7:13796936-13796937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs192845451	chr7:13797004-13797005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs539753204	chr7:13797009-13797010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs574415333	chr7:13797036-13797037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs538884735	chr7:13797050-13797051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs372532538	chr7:13797084-13797085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs17676021	chr7:13797097-13797098	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs184438365	chr7:13797103-13797104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs549672579	chr7:13797106-13797107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs566283028	chr7:13797112-13797113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs187969272	chr7:13797150-13797151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs551544595	chr7:13797194-13797195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs571317061	chr7:13797265-13797266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs536676470	chr7:13797286-13797287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs556901533	chr7:13797403-13797404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs192540441	chr7:13797432-13797433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs536162448	chr7:13797443-13797444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs552801826	chr7:13797493-13797494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs184691676	chr7:13797494-13797495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs112432505	chr7:13797583-13797584	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs116576480	chr7:13797591-13797592	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs189044036	chr7:13797745-13797746	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs557874128	chr7:13797752-13797753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs578028043	chr7:13797792-13797793	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs543484277	chr7:13797898-13797899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs181674631	chr7:13797909-13797910	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs573906220	chr7:13797941-13797942	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs17676052	chr7:13797974-13797975	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs560082281	chr7:13798013-13798014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs535251858	chr7:13798072-13798073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs528743059	chr7:13798088-13798089	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs369322237	chr7:13798130-13798131	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs555908341	chr7:13798132-13798133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs551982649	chr7:13798149-13798150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs17676075	chr7:13798156-13798157	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs530646830	chr7:13798168-13798169	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs550375526	chr7:13798174-13798175	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs567255864	chr7:13798176-13798177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs111742779	chr7:13798227-13798228	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs74359824	chr7:13798236-13798237	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs376639629	chr7:13798257-13798258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs113199128	chr7:13798263-13798264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs114683944	chr7:13798274-13798275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs538471704	chr7:13798282-13798283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs113349079	chr7:13798314-13798315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs186836157	chr7:13798337-13798338	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs560670774	chr7:13798338-13798339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs189658778	chr7:13798349-13798350	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs200255060	chr7:13798360-13798361	Enhancers	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
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
Malignant peripheral nerve sheath tumor	18522746	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:13791000-13797400	Weak transcription	Fetal Lung	lung
2	chr7:13797400-13798200	Enhancers	Fetal Lung	lung
3	chr7:13797800-13798400	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr7:13799400-13799600	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr7:13799600-13812200	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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