Variant report

Variant	nsv900357
Chromosome Location	chr13:65156748-65215262
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:65158685..65161029-chr13:65163105..65165098,2	MCF-7	breast:
2	chr13:65156439..65158958-chr13:65159138..65160900,2	K562	blood:
3	chr13:65156439..65158958-chr13:65159138..65160900,2	K562	blood:
4	chr13:65158685..65161029-chr13:65163105..65165098,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PCDH9-3	chr13:65214335-65214785	XLOC_010647

Extended variants
information (count: 342 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:342 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530326587	chr13:65197247-65197248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs548805977	chr13:65197313-65197314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs566963836	chr13:65197322-65197323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs563055143	chr13:65197328-65197329	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs534082805	chr13:65197338-65197339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs552275987	chr13:65197346-65197347	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs570578262	chr13:65197371-65197372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs34664840	chr13:65197411-65197412	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs537885066	chr13:65197443-65197444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs186605747	chr13:65197465-65197466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs553495262	chr13:65197468-65197469	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs138357020	chr13:65197502-65197503	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs535392742	chr13:65197521-65197522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs190292132	chr13:65197556-65197557	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs572291018	chr13:65197572-65197573	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs9540171	chr13:65197588-65197589	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs9598813	chr13:65197594-65197595	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs9598818	chr13:65202600-65202601	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs146435162	chr13:65202601-65202602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs569371477	chr13:65202648-65202649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs536355029	chr13:65202691-65202692	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs71442634	chr13:65202717-65202718	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs7995923	chr13:65202741-65202742	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs533899973	chr13:65202771-65202772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs558458303	chr13:65202860-65202861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs572996275	chr13:65202878-65202879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs192674406	chr13:65202893-65202894	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs533901442	chr13:65202895-65202896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs73510844	chr13:65202901-65202902	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs562534300	chr13:65203014-65203015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs149343323	chr13:65203066-65203067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs369026541	chr13:65203155-65203156	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs541950191	chr13:65203178-65203179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs144158445	chr13:65203217-65203218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs527316862	chr13:65203222-65203223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs552179106	chr13:65203252-65203253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs565624273	chr13:65203262-65203263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs532685254	chr13:65203285-65203286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs551212923	chr13:65203287-65203288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs569352021	chr13:65203306-65203307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs536825327	chr13:65203350-65203351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs548289396	chr13:65203369-65203370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs566612307	chr13:65203389-65203390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs577149420	chr13:65203396-65203397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs533961490	chr13:65203445-65203446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs544488880	chr13:65203447-65203448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs558525585	chr13:65203453-65203454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs577108900	chr13:65203472-65203473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs141750891	chr13:65203494-65203495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs556378476	chr13:65203501-65203502	Weak transcription	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
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:65197200-65197600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr13:65202600-65203200	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr13:65202800-65203200	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr13:65203200-65208000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr13:65203200-65208200	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr13:65208000-65208400	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr13:65208000-65208600	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr13:65208200-65208600	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr13:65213200-65213800	Enhancers	A549	lung
10	chr13:65213200-65214800	Enhancers	Hela-S3	cervix
11	chr13:65213600-65214600	Enhancers	Muscle Satellite Cultured Cells	--
12	chr13:65213600-65214800	Enhancers	HUVEC	blood vessel
13	chr13:65213800-65214800	Flanking Active TSS	A549	lung
14	chr13:65214800-65215000	Enhancers	A549	lung
15	chr13:65214800-65217600	Weak transcription	HUVEC	blood vessel

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