Variant report

Variant	nsv974021
Chromosome Location	chr13:62717340-62732532
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 179 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:179 , 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	rs7318359	chr13:62723602-62723603	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs146205251	chr13:62723744-62723745	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs534172514	chr13:62723753-62723754	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs7318734	chr13:62723781-62723782	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs538011543	chr13:62723812-62723813	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs192488566	chr13:62723831-62723832	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs377494948	chr13:62723846-62723847	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs7317553	chr13:62723856-62723857	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs7317396	chr13:62723870-62723871	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs556439612	chr13:62723878-62723879	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs7317740	chr13:62723916-62723917	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs544808720	chr13:62723917-62723918	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs202045901	chr13:62723931-62723932	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs142307505	chr13:62723953-62723954	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs145940034	chr13:62723994-62723995	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs565344178	chr13:62724000-62724001	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs372372234	chr13:62724002-62724003	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs185402551	chr13:62724009-62724010	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs551109667	chr13:62724023-62724024	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs562854177	chr13:62724121-62724122	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs530321956	chr13:62724146-62724147	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs547830987	chr13:62724155-62724156	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs566110649	chr13:62724158-62724159	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs9528473	chr13:62724190-62724191	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs552003571	chr13:62724203-62724204	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs148795732	chr13:62724205-62724206	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs537652796	chr13:62724207-62724208	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs190637129	chr13:62724225-62724226	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs371968703	chr13:62724233-62724234	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs574832398	chr13:62724245-62724246	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs180753736	chr13:62724268-62724269	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs2121504	chr13:62724269-62724270	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs150873692	chr13:62724286-62724287	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs530792822	chr13:62724302-62724303	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs540590600	chr13:62724363-62724364	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs558788462	chr13:62724381-62724382	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs560755715	chr13:62724383-62724384	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs577229037	chr13:62724384-62724385	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs67007906	chr13:62724392-62724393	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs142503509	chr13:62725603-62725604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs373903040	chr13:62725632-62725633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs537854467	chr13:62725650-62725651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs185863752	chr13:62725701-62725702	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs115117844	chr13:62725723-62725724	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs4294702	chr13:62725725-62725726	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs554103590	chr13:62725798-62725799	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs190669643	chr13:62725811-62725812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs539617863	chr13:62725813-62725814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs373505058	chr13:62725814-62725815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs191542412	chr13:62725828-62725829	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
HIV/AIDS	22032296	CNVD
Prostate cancer	16705090	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	CNVD
Burkitt''s lymphoma	18698080	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	21518781	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	19359472	CNVD
Intracranial aneurysm	19064780	CNVD
Breast cancer	19287154	CNVD
Acute myeloid leukemia	18379011	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Multiple myeloma	17077331	CNVD
Ependymoma	16718352	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Squamous cell cancer	20885788	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Thyroid cancer	19087340	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Prostate cancer	16573809	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	17245344	CNVD
Prostate cancer	18632612	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Merkel cell carcinoma	19020549	CNVD
Basal cell lymphoma	17053054	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21858162	CNVD
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Gastric cancer	17908304	CNVD
Glioblastoma multiforme	21750150	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Breast cancer	17393978	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Colorectal cancer	16774939	CNVD
Adenoid cystic carcinoma	17372589	CNVD
abnormal development	18461090	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Anaplastic thyroid cancer	18753363	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:62723600-62724400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
2	chr13:62725600-62726600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr13:62727200-62727600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
4	chr13:62730600-62731800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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