Variant report

Variant	nsv900266
Chromosome Location	chr13:63206067-63277176
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AL445989.1-23	chr13:63222838-63223214	NONHSAT034150
2	lnc-PCDH20-3	chr13:63246418-63246591	ENSG00000228669
3	lnc-PCDH20-3	chr13:63260138-63260227	ENSG00000228669
4	lnc-PCDH20-17	chr13:63210043-63210152	NONHSAT034148
5	lnc-AL445989.1-23	chr13:63220133-63220531	NONHSAT034150
6	lnc-PCDH20-3	chr13:63274749-63274830	ENSG00000228669

Extended variants
information (count: 644 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:644 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565322854	chr13:63210079-63210080	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs568448595	chr13:63210113-63210114	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs373227489	chr13:63210135-63210136	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs531129601	chr13:63210151-63210152	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs532914591	chr13:63212403-63212404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs138510500	chr13:63212416-63212417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs564316174	chr13:63212419-63212420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs9592199	chr13:63212474-63212475	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs570853187	chr13:63212532-63212533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs144102897	chr13:63212597-63212598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs550200023	chr13:63212608-63212609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs192863775	chr13:63212624-63212625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs540418160	chr13:63212630-63212631	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs185242765	chr13:63212638-63212639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs190090469	chr13:63212679-63212680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs532736334	chr13:63212681-63212682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs150193707	chr13:63212687-63212688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs566170086	chr13:63212742-63212743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs539130005	chr13:63212778-63212779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs557469896	chr13:63212793-63212794	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs559855656	chr13:63212811-63212812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs377337638	chr13:63212813-63212814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs117126706	chr13:63212824-63212825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs181938015	chr13:63212825-63212826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs148363519	chr13:63212853-63212854	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs573852497	chr13:63212917-63212918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs141457758	chr13:63212935-63212936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs9539534	chr13:63212999-63213000	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs9539535	chr13:63213046-63213047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs577955107	chr13:63213047-63213048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs546314926	chr13:63213062-63213063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs543489771	chr13:63213071-63213072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs564523170	chr13:63213082-63213083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs531849585	chr13:63213124-63213125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs372590284	chr13:63213155-63213156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs550111500	chr13:63213227-63213228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs372517549	chr13:63213308-63213309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs375176331	chr13:63213326-63213327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs529569484	chr13:63213336-63213337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs73192360	chr13:63213400-63213401	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs1353855	chr13:63213512-63213513	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs571123548	chr13:63213559-63213560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs563313178	chr13:63213594-63213595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs185094996	chr13:63213642-63213643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs117017330	chr13:63213684-63213685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs551569760	chr13:63213719-63213720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs569378492	chr13:63213726-63213727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs536771933	chr13:63213728-63213729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs547203551	chr13:63213748-63213749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs555322307	chr13:63213779-63213780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

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
Anaplastic thyroid cancer	18753363	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Schizophrenia	20967226	CNVD
Schizophrenia	21346763	CNVD
Breast cancer	22522925	CNVD
Autism	20531469	CNVD

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:63212400-63212600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr13:63212600-63213000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr13:63213000-63217000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr13:63217800-63219200	Enhancers	GM12878-XiMat	blood
5	chr13:63218000-63218400	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr13:63218000-63218600	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr13:63218000-63218600	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr13:63218200-63218800	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr13:63218400-63218600	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr13:63231200-63231600	Active TSS	Spleen	Spleen
11	chr13:63235400-63235800	Enhancers	Fetal Heart	heart
12	chr13:63236000-63237400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr13:63236800-63238000	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr13:63237200-63238000	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr13:63237400-63237600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr13:63237600-63238600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr13:63239000-63239200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr13:63251800-63252600	Active TSS	A549	lung
19	chr13:63252200-63252600	Active TSS	Osteobl	bone
20	chr13:63252600-63252800	Flanking Active TSS	A549	lung
21	chr13:63263000-63265000	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr13:63263200-63264400	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr13:63263200-63266000	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr13:63263400-63264000	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr13:63263600-63264400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr13:63263600-63265200	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr13:63264000-63264200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
28	chr13:63264000-63265800	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr13:63264200-63264600	Enhancers	H1 Cell Line	embryonic stem cell
30	chr13:63264200-63264600	Enhancers	H9 Cell Line	embryonic stem cell
31	chr13:63264200-63264600	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr13:63264200-63265200	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr13:63264400-63264600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
34	chr13:63264600-63264800	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr13:63264800-63265000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
36	chr13:63265000-63266000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr13:63266000-63266400	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr13:63270800-63271000	Enhancers	Pancreas	Pancrea

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