Variant report

Variant	nsv455906
Chromosome Location	chr13:63214443-63263920
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	chr13:63246418-63246591	ENSG00000228669
2	lnc-AL445989.1-23	chr13:63220133-63220531	NONHSAT034150
3	lnc-PCDH20-3	chr13:63260138-63260227	ENSG00000228669
4	lnc-AL445989.1-23	chr13:63222838-63223214	NONHSAT034150

Extended variants
information (count: 443 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:443 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2809603	chr13:63214443-63214444	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
2	rs557813472	chr13:63214508-63214509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs577859041	chr13:63214512-63214513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs1499484	chr13:63214520-63214521	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs548957998	chr13:63214527-63214528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs538953878	chr13:63214551-63214552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs557171117	chr13:63214555-63214556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs115871891	chr13:63214576-63214577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs543889462	chr13:63214594-63214595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs146060883	chr13:63214597-63214598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs139368231	chr13:63214603-63214604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs541032173	chr13:63214627-63214628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs190310436	chr13:63214632-63214633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs149968175	chr13:63214652-63214653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs80116012	chr13:63214717-63214718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs545330889	chr13:63214718-63214719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs566391106	chr13:63214719-63214720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs61950817	chr13:63214722-63214723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs531061423	chr13:63214729-63214730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs559894272	chr13:63214756-63214757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs549560422	chr13:63214775-63214776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs567207250	chr13:63214823-63214824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs144988475	chr13:63214848-63214849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs182861960	chr13:63214862-63214863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs573421088	chr13:63214929-63214930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs187896809	chr13:63214945-63214946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs564847281	chr13:63215001-63215002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs538919236	chr13:63215016-63215017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs542279079	chr13:63215020-63215021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs190809001	chr13:63215138-63215139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs531159101	chr13:63215235-63215236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs74085524	chr13:63215257-63215258	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs536013173	chr13:63215282-63215283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs111257193	chr13:63215305-63215306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs182659034	chr13:63215311-63215312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs528752736	chr13:63215322-63215323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs568999642	chr13:63215361-63215362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs187747566	chr13:63215373-63215374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs564663527	chr13:63215395-63215396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs9539536	chr13:63215462-63215463	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs547240473	chr13:63215468-63215469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs548217963	chr13:63215585-63215586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs192731062	chr13:63215614-63215615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs563595309	chr13:63215622-63215623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs531248203	chr13:63215715-63215716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs199846976	chr13:63215717-63215718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs561551178	chr13:63215724-63215725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs567036235	chr13:63215742-63215743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs566745873	chr13:63215746-63215747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs184701812	chr13:63215775-63215776	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:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:63213000-63217000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr13:63217800-63219200	Enhancers	GM12878-XiMat	blood
3	chr13:63218000-63218400	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr13:63218000-63218600	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr13:63218000-63218600	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr13:63218200-63218800	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr13:63218400-63218600	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr13:63231200-63231600	Active TSS	Spleen	Spleen
9	chr13:63235400-63235800	Enhancers	Fetal Heart	heart
10	chr13:63236000-63237400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr13:63236800-63238000	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr13:63237200-63238000	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr13:63237400-63237600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr13:63237600-63238600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr13:63239000-63239200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr13:63251800-63252600	Active TSS	A549	lung
17	chr13:63252200-63252600	Active TSS	Osteobl	bone
18	chr13:63252600-63252800	Flanking Active TSS	A549	lung
19	chr13:63263000-63265000	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr13:63263200-63264400	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr13:63263200-63266000	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr13:63263400-63264000	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr13:63263600-63264400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr13:63263600-63265200	Enhancers	iPS-18 Cell Line	embryonic stem cell

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