Variant report

Variant	nsv561872
Chromosome Location	chr13:62641458-62657335
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PCDH20-14	chr13:62655235-62655462	NONHSAT034139

Extended variants
information (count: 56 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:56 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150543366	chr13:62642461-62642462	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs139876744	chr13:62642475-62642476	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs533010068	chr13:62642478-62642479	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs551147739	chr13:62642479-62642480	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs372565049	chr13:62642496-62642497	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs143128549	chr13:62642524-62642525	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs559842813	chr13:62642528-62642529	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs190513142	chr13:62642613-62642614	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs536947190	chr13:62642654-62642655	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs549769963	chr13:62642656-62642657	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs73222815	chr13:62642665-62642666	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs182175721	chr13:62642672-62642673	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs535965141	chr13:62642695-62642696	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs370282636	chr13:62642705-62642706	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs554000987	chr13:62642773-62642774	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs572485451	chr13:62642775-62642776	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs539684488	chr13:62642778-62642779	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs186014563	chr13:62642790-62642791	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs190887054	chr13:62642794-62642795	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs544088707	chr13:62642802-62642803	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs11843331	chr13:62642843-62642844	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs146667850	chr13:62642848-62642849	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs541000813	chr13:62642853-62642854	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs139732666	chr13:62642860-62642861	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs533039469	chr13:62642922-62642923	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs551211566	chr13:62642933-62642934	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs73502870	chr13:62642949-62642950	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs79080807	chr13:62642977-62642978	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs548835296	chr13:62642986-62642987	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs575731874	chr13:62652051-62652052	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs542734820	chr13:62652061-62652062	Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs79629475	chr13:62652078-62652079	Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs7322032	chr13:62652084-62652085	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs540390423	chr13:62652120-62652121	Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs565241544	chr13:62652149-62652150	Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs532693310	chr13:62652166-62652167	Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs114769071	chr13:62652168-62652169	Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs181468180	chr13:62652193-62652194	Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs187067984	chr13:62652205-62652206	Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs548002329	chr13:62652237-62652238	Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs79939294	chr13:62652285-62652286	Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs77829914	chr13:62652306-62652307	Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs558736330	chr13:62652329-62652330	Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs543091760	chr13:62652332-62652333	Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs570804457	chr13:62652344-62652345	Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs537738477	chr13:62652348-62652349	Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs9670976	chr13:62655236-62655237	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs550694995	chr13:62655278-62655279	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
49	rs550268867	chr13:62655346-62655347	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
50	rs568527395	chr13:62655356-62655357	Inactive region	lncRNA	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
Anaplastic thyroid cancer	18753363	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:62642400-62643000	Active TSS	Fetal Kidney	kidney
2	chr13:62652000-62652400	Active TSS	Fetal Brain Male	brain

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