Variant report

Variant	nsv561952
Chromosome Location	chr13:64259484-64290806
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PCDH20-9	chr13:64261535-64261688	XLOC_010643
2	lnc-PCDH20-9	chr13:64288485-64288508	XLOC_010643

Variant related genes	Relation type
DUSP2	miRNA target sites
DUSP3	miRNA target sites

Extended variants
information (count: 113 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:113 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17088704	chr13:64259484-64259485	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs76696476	chr13:64259513-64259514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs562050949	chr13:64259526-64259527	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs376164010	chr13:64259545-64259546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs529453076	chr13:64259566-64259567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs547862435	chr13:64259571-64259572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs565873931	chr13:64259594-64259595	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs539222518	chr13:64259658-64259659	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs140230537	chr13:64259696-64259697	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs12864820	chr13:64259703-64259704	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs551674168	chr13:64259764-64259765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs9570989	chr13:64259767-64259768	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs536932504	chr13:64259786-64259787	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs532120253	chr13:64261536-64261537	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs550433051	chr13:64261570-64261571	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs568997710	chr13:64261571-64261572	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs144637604	chr13:64261619-64261620	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs549609083	chr13:64261621-64261622	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs567813181	chr13:64261643-64261644	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs9570993	chr13:64261656-64261657	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs181124499	chr13:64261665-64261666	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs115344933	chr13:64261678-64261679	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs367965293	chr13:64262804-64262805	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs76271555	chr13:64262815-64262816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs78912187	chr13:64262834-64262835	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs17088713	chr13:64262893-64262894	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs9570996	chr13:64262939-64262940	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs547185114	chr13:64262940-64262941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs76150451	chr13:64262945-64262946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs9570997	chr13:64262946-64262947	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs180861980	chr13:64262982-64262983	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs543667892	chr13:64262991-64262992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs386771710	chr13:64262999-64263000	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs568947488	chr13:64263001-64263002	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs140249795	chr13:64263009-64263010	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs150293076	chr13:64263061-64263062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs375488314	chr13:64263075-64263076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs533997621	chr13:64263077-64263078	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs185911827	chr13:64263106-64263107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs145416774	chr13:64263118-64263119	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs149211079	chr13:64263236-64263237	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs143342747	chr13:64263279-64263280	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs191234744	chr13:64263322-64263323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs183170281	chr13:64263329-64263330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs185628149	chr13:64263342-64263343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs9570998	chr13:64263345-64263346	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs371999265	chr13:64263379-64263380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs571403957	chr13:64263381-64263382	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs9570999	chr13:64263419-64263420	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs565518922	chr13:64263430-64263431	Enhancers	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
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:64259000-64259800	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr13:64259000-64259800	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr13:64259200-64259600	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr13:64262800-64263600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr13:64274200-64275000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr13:64274400-64274800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr13:64274400-64275000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr13:64274600-64275200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr13:64279200-64279600	Enhancers	Fetal Brain Male	brain

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