Variant report

Variant	nsv983520
Chromosome Location	chr13:63800761-63806203
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr13:63805105-63805108	H1-hESC	embryonic stem cell:	n/a	n/a
2	MAFK	chr13:63804727-63804938	HepG2	liver:	n/a	n/a
3	POLR2A	chr13:63802712-63802786	MCF10A-Er-Src	breast:	n/a	n/a
4	STAT3	chr13:63805940-63806001	MCF10A-Er-Src	breast:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PCDH20-5	chr13:63801112-63801189	XLOC_010639

Variant related genes	Relation type
LINC00376	TF binding region

Extended variants
information (count: 52 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:52 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146828176	chr13:63800861-63800862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs576351252	chr13:63800865-63800866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs139125675	chr13:63800917-63800918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs145635965	chr13:63800983-63800984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs61057771	chr13:63800990-63800991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs55787756	chr13:63801009-63801010	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs139536560	chr13:63801057-63801058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs546132235	chr13:63801086-63801087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs374570881	chr13:63801113-63801114	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
10	rs564462087	chr13:63801130-63801131	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
11	rs545345691	chr13:63801140-63801141	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
12	rs565207740	chr13:63801187-63801188	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
13	rs549746894	chr13:63801193-63801194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs9592250	chr13:63801202-63801203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs35042347	chr13:63801203-63801204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs59950383	chr13:63801232-63801233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs561771907	chr13:63801254-63801255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs367725208	chr13:63801292-63801293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs371925595	chr13:63801293-63801294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs547908875	chr13:63801377-63801378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs572354535	chr13:63801418-63801419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs376529931	chr13:63801419-63801420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs369135162	chr13:63801536-63801537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs539625163	chr13:63801540-63801541	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs531286304	chr13:63801552-63801553	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs551675296	chr13:63801555-63801556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs569983080	chr13:63801712-63801713	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs537377412	chr13:63801788-63801789	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs368619133	chr13:63801797-63801798	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs143153544	chr13:63801816-63801817	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs573629249	chr13:63801833-63801834	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs17321875	chr13:63801885-63801886	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs141691175	chr13:63801896-63801897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs578038140	chr13:63801938-63801939	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs396215	chr13:63801947-63801948	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs572519723	chr13:63801959-63801960	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs430285	chr13:63801969-63801970	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs147483987	chr13:63801997-63801998	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs138119338	chr13:63802074-63802075	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs557924579	chr13:63802713-63802714	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs369819172	chr13:63802761-63802762	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs149227918	chr13:63804731-63804732	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs540471515	chr13:63804765-63804766	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs564859901	chr13:63804789-63804790	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs298849	chr13:63804819-63804820	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs532060721	chr13:63804827-63804828	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs34461657	chr13:63804845-63804846	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs188683305	chr13:63804889-63804890	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs562174779	chr13:63804897-63804898	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs551804852	chr13:63804913-63804914	Inactive region	TF binding region	1 gene(s)	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
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:63799000-63801400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr13:63801400-63802200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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