Variant report

Variant	nsv900262
Chromosome Location	chr13:63197837-63252427
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-AL445989.1-23	chr13:63220133-63220531	NONHSAT034150
3	lnc-PCDH20-17	chr13:63199185-63199216	NONHSAT034148
4	lnc-PCDH20-17	chr13:63210043-63210152	NONHSAT034148
5	lnc-PCDH20-3	chr13:63246418-63246591	ENSG00000228669
6	lnc-PCDH20-17	chr13:63201523-63201643	NONHSAT034148

Extended variants
information (count: 528 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:528 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533044506	chr13:63199197-63199198	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs577594476	chr13:63199645-63199646	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs373298507	chr13:63199654-63199655	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs544958294	chr13:63199774-63199775	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs563640959	chr13:63199831-63199832	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs145060237	chr13:63199924-63199925	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs559630884	chr13:63199943-63199944	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs578008679	chr13:63199991-63199992	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs538969296	chr13:63200002-63200003	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs549150170	chr13:63200009-63200010	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs561071223	chr13:63200084-63200085	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs11841657	chr13:63200096-63200097	ZNF genes & repeats Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs547941705	chr13:63200104-63200105	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs192934623	chr13:63200128-63200129	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs118058343	chr13:63200157-63200158	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs551787251	chr13:63200163-63200164	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs570283320	chr13:63200227-63200228	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs537353802	chr13:63200259-63200260	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs555507951	chr13:63200292-63200293	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs567543058	chr13:63200327-63200328	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs201886278	chr13:63200336-63200337	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs371144211	chr13:63200342-63200343	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs552683674	chr13:63200349-63200350	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs577556236	chr13:63200366-63200367	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs545034289	chr13:63200413-63200414	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs556683757	chr13:63200421-63200422	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs374488193	chr13:63200444-63200445	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs541261539	chr13:63200448-63200449	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs6562282	chr13:63200449-63200450	Active TSS ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs542957724	chr13:63200454-63200455	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs563355794	chr13:63200527-63200528	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs561034111	chr13:63200557-63200558	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs74082990	chr13:63200558-63200559	Active TSS ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs541530490	chr13:63200713-63200714	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs559847198	chr13:63200771-63200772	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs184569858	chr13:63200778-63200779	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs573685811	chr13:63200813-63200814	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs569965907	chr13:63200825-63200826	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs149112214	chr13:63200869-63200870	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs549295737	chr13:63200870-63200871	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs567504215	chr13:63200888-63200889	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs541771419	chr13:63200973-63200974	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs534925654	chr13:63201038-63201039	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs552646994	chr13:63201039-63201040	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs571273047	chr13:63201082-63201083	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs538361943	chr13:63201110-63201111	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs561125173	chr13:63201138-63201139	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs556879324	chr13:63201142-63201143	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs112507281	chr13:63201153-63201154	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs574615436	chr13:63201163-63201164	Active TSS ZNF genes & repeats	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	chr13:63199600-63201400	Active TSS	HSMMtube	muscle
2	chr13:63199800-63200400	ZNF genes & repeats	Fetal Muscle Trunk	muscle
3	chr13:63200400-63201200	ZNF genes & repeats	Fetal Muscle Leg	muscle
4	chr13:63200400-63202000	Active TSS	Fetal Muscle Trunk	muscle
5	chr13:63201200-63201600	Active TSS	Fetal Muscle Leg	muscle
6	chr13:63212400-63212600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr13:63212600-63213000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr13:63213000-63217000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr13:63217800-63219200	Enhancers	GM12878-XiMat	blood
10	chr13:63218000-63218400	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr13:63218000-63218600	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr13:63218000-63218600	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr13:63218200-63218800	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr13:63218400-63218600	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr13:63231200-63231600	Active TSS	Spleen	Spleen
16	chr13:63235400-63235800	Enhancers	Fetal Heart	heart
17	chr13:63236000-63237400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr13:63236800-63238000	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr13:63237200-63238000	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr13:63237400-63237600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr13:63237600-63238600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr13:63239000-63239200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr13:63251800-63252600	Active TSS	A549	lung
24	chr13:63252200-63252600	Active TSS	Osteobl	bone

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