Variant report

Variant	nsv456045
Chromosome Location	chr13:84801379-84807007
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:38 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146787218	chr13:84804407-84804408	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs57710528	chr13:84804436-84804437	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs533463540	chr13:84804438-84804439	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs199824846	chr13:84804441-84804442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs67128968	chr13:84804450-84804451	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs562130708	chr13:84804452-84804453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs35494456	chr13:84804463-84804464	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs66465023	chr13:84804469-84804470	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs547725033	chr13:84804490-84804491	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs533338392	chr13:84804525-84804526	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs67997277	chr13:84804538-84804539	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs188992383	chr13:84804553-84804554	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs529252093	chr13:84804560-84804561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs181622456	chr13:84804645-84804646	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs145684073	chr13:84804662-84804663	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs569036786	chr13:84804672-84804673	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs373852243	chr13:84804673-84804674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs531426217	chr13:84804679-84804680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs200827571	chr13:84804680-84804681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs187183649	chr13:84804725-84804726	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs192288110	chr13:84804732-84804733	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs533131797	chr13:84804814-84804815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs551342262	chr13:84804929-84804930	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs7991965	chr13:84804942-84804943	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs565381829	chr13:84804954-84804955	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs181045047	chr13:84804974-84804975	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs553398913	chr13:84804983-84804984	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs566925192	chr13:84805024-84805025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs535710245	chr13:84805046-84805047	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs555657736	chr13:84805067-84805068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs35540429	chr13:84805101-84805102	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs538084979	chr13:84805119-84805120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs549208813	chr13:84805128-84805129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs112542960	chr13:84805172-84805173	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs185259517	chr13:84805207-84805208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs567303221	chr13:84805218-84805219	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs540629524	chr13:84805276-84805277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs34927248	chr13:84805358-84805359	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
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
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	21098271	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	18632612	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Breast cancer	21858162	CNVD
Metanephric adenoma	20802469	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Gastric cancer	17908304	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
abnormal development	18461090	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	21965145	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Urothelial cell carcinoma	18451213	CNVD
Developmental delay	19490664	CNVD
Neurodevelopmental disorder	22521361	CNVD
Cancer	21220470	CNVD
Cancer	21183584	CNVD
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Cancer	17160897	CNVD
Mantle cell lymphoma	19690137	CNVD
Rhabdomyosarcoma	17210683	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Epilepsy	20502679	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:84804400-84805000	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr13:84804400-84805000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr13:84804400-84805400	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr13:84804400-84805400	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr13:84804600-84805200	Enhancers	HUES48 Cell Line	embryonic stem cell

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