Variant report

Variant	nsv1068
Chromosome Location	chr13:62063178-62108404
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: 365 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:365 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141297805	chr13:62063203-62063204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs542637753	chr13:62063215-62063216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs146978781	chr13:62063226-62063227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs377308077	chr13:62063256-62063257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs528588959	chr13:62063338-62063339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs61601007	chr13:62063342-62063343	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs536458881	chr13:62063347-62063348	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs565337173	chr13:62063351-62063352	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs532796463	chr13:62063387-62063388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs147621791	chr13:62063419-62063420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs560645853	chr13:62063495-62063496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs190585275	chr13:62063501-62063502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs370788518	chr13:62063552-62063553	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs369018638	chr13:62063623-62063624	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs73486616	chr13:62063673-62063674	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs547892110	chr13:62063720-62063721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs199809579	chr13:62063749-62063750	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs529465409	chr13:62063794-62063795	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs533653256	chr13:62063847-62063848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs552295508	chr13:62063854-62063855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs113665569	chr13:62063894-62063895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs570301500	chr13:62063905-62063906	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs537429174	chr13:62063924-62063925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs35573033	chr13:62063926-62063927	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs537680923	chr13:62063931-62063932	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs142058653	chr13:62063932-62063933	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs574412314	chr13:62063939-62063940	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs2876810	chr13:62063961-62063962	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs183139436	chr13:62064037-62064038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs77592391	chr13:62064038-62064039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs540364496	chr13:62064068-62064069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs115361573	chr13:62064072-62064073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs200719985	chr13:62064093-62064094	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs373930222	chr13:62064110-62064111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs544842539	chr13:62064121-62064122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs543249368	chr13:62064124-62064125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs530425231	chr13:62064142-62064143	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs563113361	chr13:62064191-62064192	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs531836969	chr13:62064205-62064206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs4474590	chr13:62064210-62064211	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs559889072	chr13:62064237-62064238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs527322381	chr13:62064266-62064267	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs551968673	chr13:62064283-62064284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs35888344	chr13:62064292-62064293	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs551931492	chr13:62064340-62064341	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs145902446	chr13:62064389-62064390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs537619664	chr13:62064425-62064426	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs549577299	chr13:62064482-62064483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs138357289	chr13:62064561-62064562	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs571599842	chr13:62064659-62064660	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:62061600-62063200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr13:62063200-62065600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr13:62065600-62071600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr13:62071600-62072200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr13:62101000-62101400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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