Variant report

Variant	nsv900268
Chromosome Location	chr13:63229879-63277176
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PCDH20-3	chr13:63274749-63274830	ENSG00000228669
2	lnc-PCDH20-3	chr13:63246418-63246591	ENSG00000228669
3	lnc-PCDH20-3	chr13:63260138-63260227	ENSG00000228669

Extended variants
information (count: 370 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:370 , 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	rs564441723	chr13:63231212-63231213	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs531751395	chr13:63231267-63231268	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs60691111	chr13:63231326-63231327	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs76957377	chr13:63231349-63231350	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs11619774	chr13:63231354-63231355	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs559723469	chr13:63231411-63231412	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs372524795	chr13:63231416-63231417	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs34526350	chr13:63231421-63231422	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs547061887	chr13:63231449-63231450	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs565709835	chr13:63231452-63231453	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs192410625	chr13:63231505-63231506	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs551606582	chr13:63231509-63231510	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs55930794	chr13:63231526-63231527	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs542072841	chr13:63231539-63231540	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs537213787	chr13:63231572-63231573	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs555628480	chr13:63231581-63231582	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs571946919	chr13:63235473-63235474	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs539375512	chr13:63235501-63235502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs142438927	chr13:63235560-63235561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs569518371	chr13:63235603-63235604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs192464582	chr13:63235648-63235649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs146302850	chr13:63235658-63235659	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs147887642	chr13:63235667-63235668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs557870806	chr13:63235683-63235684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs533527642	chr13:63235694-63235695	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs558160606	chr13:63235704-63235705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs74082743	chr13:63235746-63235747	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs117275546	chr13:63235760-63235761	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs114729606	chr13:63236093-63236094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs528612727	chr13:63236159-63236160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs540247623	chr13:63236161-63236162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs565320296	chr13:63236169-63236170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs9598479	chr13:63236188-63236189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs546211616	chr13:63236198-63236199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs551248950	chr13:63236276-63236277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs374493646	chr13:63236311-63236312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs74337534	chr13:63236386-63236387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs74082744	chr13:63236391-63236392	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs548787556	chr13:63236393-63236394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs528815040	chr13:63236395-63236396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs559683000	chr13:63236405-63236406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs533925686	chr13:63236543-63236544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs372417834	chr13:63236575-63236576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs558125763	chr13:63236611-63236612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs570065181	chr13:63236643-63236644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs537454548	chr13:63236685-63236686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs556005630	chr13:63236707-63236708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs574698552	chr13:63236708-63236709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs552039015	chr13:63236834-63236835	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs553967161	chr13:63236838-63236839	Weak transcription 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
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
Autism	20531469	CNVD

Chromatin state (count:29 , 50 per page) page: 1

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

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