Variant report

Variant	nsv523813
Chromosome Location	chr7:19433802-19435946
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 94 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:94 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12700045	chr7:19433802-19433803	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs146283296	chr7:19433848-19433849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs184245181	chr7:19433877-19433878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs549100976	chr7:19433887-19433888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs188181437	chr7:19433947-19433948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs531351106	chr7:19433951-19433952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs549483771	chr7:19433962-19433963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs571199574	chr7:19434003-19434004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs557286173	chr7:19434007-19434008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs538583051	chr7:19434042-19434043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs200481963	chr7:19434046-19434047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs112412175	chr7:19434047-19434048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs574315648	chr7:19434053-19434054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs547280909	chr7:19434179-19434180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs193161974	chr7:19434214-19434215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs374838743	chr7:19434219-19434220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs184599070	chr7:19434220-19434221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs559713491	chr7:19434226-19434227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs188619948	chr7:19434285-19434286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs377335224	chr7:19434316-19434317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs574017210	chr7:19434347-19434348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs149065695	chr7:19434366-19434367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs557003562	chr7:19434377-19434378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs191797672	chr7:19434423-19434424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs578061611	chr7:19434483-19434484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs10281096	chr7:19434499-19434500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs183575429	chr7:19434511-19434512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs560719236	chr7:19434534-19434535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs188310149	chr7:19434583-19434584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs17141258	chr7:19434612-19434613	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs561059320	chr7:19434614-19434615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs531333899	chr7:19434627-19434628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs76918445	chr7:19434648-19434649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs114601573	chr7:19434664-19434665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs147780965	chr7:19434682-19434683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs182086776	chr7:19434703-19434704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs187432743	chr7:19434732-19434733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs537507081	chr7:19434750-19434751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs116878487	chr7:19434800-19434801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs116522313	chr7:19434806-19434807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs548054977	chr7:19434832-19434833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs569814421	chr7:19434857-19434858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs141417924	chr7:19434910-19434911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs571503774	chr7:19434928-19434929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs556614812	chr7:19434947-19434948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs571668153	chr7:19434968-19434969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs147020223	chr7:19435015-19435016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs148062431	chr7:19435022-19435023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs553550825	chr7:19435034-19435035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs373756191	chr7:19435056-19435057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	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
Cutaneous T-cell lymphoma	21881587	CNVD
Heart disease	21282601	CNVD
Rubinstein-Taybi syndrome	22470819	CNVD
Alzheimer''s disease	22166940	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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:19432400-19436800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr7:19432600-19437200	Weak transcription	HSMM	muscle
3	chr7:19432600-19437400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr7:19432600-19437400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr7:19432600-19437400	Weak transcription	NHDF-Ad	bronchial
6	chr7:19432800-19437200	Weak transcription	Osteobl	bone
7	chr7:19432800-19437400	Weak transcription	NH-A	brain
8	chr7:19432800-19441400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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