Variant report

Variant	nsv974247
Chromosome Location	chr13:63499363-63530301
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PCDH20-20	chr13:63506481-63506671	NONHSAT034156

Extended variants
information (count: 327 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:327 , 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	rs143697807	chr13:63499370-63499371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs75562442	chr13:63499429-63499430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs187357066	chr13:63499451-63499452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs192620858	chr13:63499591-63499592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs185628733	chr13:63499624-63499625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs577305539	chr13:63499648-63499649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs147654341	chr13:63499658-63499659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs544671557	chr13:63499659-63499660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs556562511	chr13:63499681-63499682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs540660517	chr13:63499687-63499688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs574847743	chr13:63499711-63499712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs542566921	chr13:63499713-63499714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs189239640	chr13:63499735-63499736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs528321671	chr13:63499793-63499794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs540399278	chr13:63499798-63499799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs559919867	chr13:63499802-63499803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs370442550	chr13:63499854-63499855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs533478881	chr13:63499856-63499857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs551876133	chr13:63499857-63499858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs9539606	chr13:63499869-63499870	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs9539607	chr13:63499874-63499875	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs192610708	chr13:63499895-63499896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs9539608	chr13:63499916-63499917	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs534942734	chr13:63499978-63499979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs117788884	chr13:63500024-63500025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs34679447	chr13:63500032-63500033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs571480108	chr13:63500063-63500064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs538351104	chr13:63500079-63500080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs148125452	chr13:63500090-63500091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs143824114	chr13:63500091-63500092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs569406259	chr13:63500112-63500113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs147233763	chr13:63500151-63500152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs554594362	chr13:63500202-63500203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs551859337	chr13:63500209-63500210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs140713430	chr13:63500211-63500212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs530267054	chr13:63500214-63500215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs184779608	chr13:63500215-63500216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs545562407	chr13:63500228-63500229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs563770626	chr13:63500255-63500256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs550659299	chr13:63500261-63500262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs549345715	chr13:63500274-63500275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs548353560	chr13:63500287-63500288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs571763334	chr13:63500296-63500297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs561093694	chr13:63500302-63500303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs534234619	chr13:63500314-63500315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs554188994	chr13:63500315-63500316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs188515089	chr13:63500322-63500323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs571516289	chr13:63500323-63500324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs9539609	chr13:63500338-63500339	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs550307150	chr13:63500346-63500347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

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

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:63494000-63502600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr13:63502200-63502600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr13:63502600-63502800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr13:63503600-63504000	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr13:63505200-63505600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr13:63505400-63505600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr13:63505400-63505800	Enhancers	NHDF-Ad	bronchial
8	chr13:63505400-63508200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr13:63505600-63506200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr13:63505600-63506200	Enhancers	Rectal Smooth Muscle	rectum
11	chr13:63505600-63507000	Enhancers	Dnd41	blood
12	chr13:63505800-63506000	Flanking Active TSS	NHDF-Ad	bronchial
13	chr13:63505800-63506200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr13:63506000-63506400	Enhancers	Colon Smooth Muscle	Colon
15	chr13:63506000-63506400	Active TSS	NHDF-Ad	bronchial
16	chr13:63506200-63507000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr13:63507000-63507600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr13:63507000-63508000	Weak transcription	Dnd41	blood
19	chr13:63507600-63508400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr13:63508000-63508200	Enhancers	Dnd41	blood
21	chr13:63518600-63520200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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