Variant report

Variant	nsv974097
Chromosome Location	chr13:63541885-63556762
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	chr13:63547376-63548145	NONHSAT034156

Extended variants
information (count: 224 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:224 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573100373	chr13:63547378-63547379	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs9563999	chr13:63547417-63547418	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs181492880	chr13:63547480-63547481	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs542627667	chr13:63547485-63547486	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs532716444	chr13:63547536-63547537	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs576642601	chr13:63547570-63547571	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs543974963	chr13:63547605-63547606	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs186055173	chr13:63547611-63547612	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs575294970	chr13:63547618-63547619	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs542697859	chr13:63547637-63547638	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs371657458	chr13:63547678-63547679	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs561334780	chr13:63547703-63547704	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs528813070	chr13:63547740-63547741	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs112034320	chr13:63547767-63547768	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs4381474	chr13:63547839-63547840	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs34892662	chr13:63547841-63547842	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs532754128	chr13:63547854-63547855	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs551152336	chr13:63547866-63547867	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs569012190	chr13:63547898-63547899	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs536343261	chr13:63547942-63547943	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs545419117	chr13:63547986-63547987	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs191215587	chr13:63547994-63547995	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs552669835	chr13:63547995-63547996	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs558448686	chr13:63548004-63548005	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs569717625	chr13:63548018-63548019	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs1913176	chr13:63548050-63548051	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs2262402	chr13:63548084-63548085	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs537660453	chr13:63548127-63548128	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs555932263	chr13:63548140-63548141	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs114461631	chr13:63551461-63551462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs569926341	chr13:63551470-63551471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs537606128	chr13:63551479-63551480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs191305118	chr13:63551488-63551489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs35849667	chr13:63551493-63551494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs573645743	chr13:63551509-63551510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs540704091	chr13:63551511-63551512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs552982998	chr13:63551524-63551525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs73499674	chr13:63551551-63551552	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs545312178	chr13:63551686-63551687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs563532400	chr13:63551722-63551723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs73499676	chr13:63551742-63551743	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs2875243	chr13:63551758-63551759	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs562054057	chr13:63551770-63551771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs529370256	chr13:63551783-63551784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs73499681	chr13:63551836-63551837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs571303330	chr13:63551875-63551876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs2669320	chr13:63551886-63551887	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs533117686	chr13:63551891-63551892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs201985278	chr13:63551894-63551895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs370909031	chr13:63551921-63551922	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:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:63551400-63554600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr13:63554400-63555000	Enhancers	Dnd41	blood
3	chr13:63554600-63555000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr13:63555000-63563000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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