Variant report

Variant	nsv900247
Chromosome Location	chr13:62070819-62095636
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:22412456..22413254-chr13:62086366..62087234,2	HCT-116	colon:

Extended variants
information (count: 49 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:49 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2329317	chr13:62070819-62070820	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
2	rs559130519	chr13:62070820-62070821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs577493788	chr13:62070827-62070828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs187610818	chr13:62070863-62070864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs544811118	chr13:62070936-62070937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs557414711	chr13:62070980-62070981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs556543268	chr13:62071016-62071017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs146410912	chr13:62071023-62071024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs376572219	chr13:62071034-62071035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs541411509	chr13:62071037-62071038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs140804900	chr13:62071071-62071072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs539359464	chr13:62071119-62071120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs545476897	chr13:62071139-62071140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs563864669	chr13:62071242-62071243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs531369469	chr13:62071290-62071291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs145146747	chr13:62071327-62071328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs572634894	chr13:62071334-62071335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs57345133	chr13:62071359-62071360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs561787431	chr13:62071375-62071376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs529185734	chr13:62071397-62071398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs139023960	chr13:62071409-62071410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs554666592	chr13:62071413-62071414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs574447692	chr13:62071438-62071439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs115504325	chr13:62071449-62071450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs534215548	chr13:62071460-62071461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs552678394	chr13:62071503-62071504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs75532766	chr13:62071615-62071616	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs563385709	chr13:62071617-62071618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs556717635	chr13:62071621-62071622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs574977993	chr13:62071642-62071643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs536136713	chr13:62071654-62071655	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs554077823	chr13:62071674-62071675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs532299010	chr13:62071690-62071691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs76224074	chr13:62071701-62071702	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs74512256	chr13:62071720-62071721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs150980028	chr13:62071725-62071726	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs563799180	chr13:62071731-62071732	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs575736955	chr13:62071763-62071764	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs543200626	chr13:62071777-62071778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs9539188	chr13:62071881-62071882	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs149585498	chr13:62071918-62071919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs565666979	chr13:62071960-62071961	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs527649966	chr13:62072002-62072003	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs190690079	chr13:62072068-62072069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs570908273	chr13:62072079-62072080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs377465931	chr13:62072099-62072100	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs55722227	chr13:62072104-62072105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs112325622	chr13:62072120-62072121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs182702754	chr13:62072146-62072147	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

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
small cell lung cancer	20016488	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
Lung cancer	18438408	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
Esophageal squamous carcinoma	20200074	CNVD
Myelofibrosis	22110671	CNVD
Anaplastic thyroid cancer	18753363	CNVD
Bipolar disorder	19214233	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:62065600-62071600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr13:62071600-62072200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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