Variant report

Variant	nsv976266
Chromosome Location	chr13:62000157-62006402
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:24)
CpG islands
(count:123)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:24 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	E2F4	chr13:62004613-62005025	MCF10A-Er-Src	breast:	n/a	n/a
2	EP300	chr13:62005974-62006777	SK-N-SH	brain:	n/a	n/a
3	FOS	chr13:62002444-62002644	MCF10A-Er-Src	breast:	n/a	n/a
4	FOS	chr13:62002469-62002669	MCF10A-Er-Src	breast:	n/a	n/a
5	FOS	chr13:62002483-62002700	MCF10A-Er-Src	breast:	n/a	n/a
6	GATA2	chr13:62003025-62003444	SH-SY5Y	brain:	n/a	n/a
7	GATA3	chr13:62003120-62003556	SH-SY5Y	brain:	n/a	chr13:62003512-62003519
8	GATA3	chr13:62006120-62006677	SK-N-SH	brain:	n/a	n/a
9	GATA3	chr13:62006156-62006557	SH-SY5Y	brain:	n/a	n/a
10	GATA3	chr13:62001379-62001710	SH-SY5Y	brain:	n/a	n/a
11	IRF3	chr13:62001651-62001715	GM12878	blood:	n/a	n/a
12	MAFF	chr13:62004338-62004735	HepG2	liver:	n/a	chr13:62004564-62004578
13	MAFK	chr13:62004295-62004614	HepG2	liver:	n/a	n/a
14	MAFK	chr13:62002137-62002267	HepG2	liver:	n/a	n/a
15	MAFK	chr13:62006306-62006480	HepG2	liver:	n/a	chr13:62006371-62006387 chr13:62006319-62006330 chr13:62006319-62006330
16	POLR2A	chr13:62005748-62005749	MCF10A-Er-Src	breast:	n/a	n/a
17	POLR2A	chr13:62001523-62001661	MCF10A-Er-Src	breast:	n/a	n/a
18	POLR2A	chr13:62006106-62006543	SK-N-MC	brain:	n/a	n/a
19	POLR2A	chr13:62000293-62000420	MCF10A-Er-Src	breast:	n/a	n/a
20	POLR2A	chr13:62004066-62004197	MCF10A-Er-Src	breast:	n/a	n/a
21	POLR2A	chr13:62004452-62004621	MCF10A-Er-Src	breast:	n/a	n/a
22	STAT3	chr13:62002600-62002610	MCF10A-Er-Src	breast:	n/a	n/a
23	STAT3	chr13:62002556-62002680	MCF10A-Er-Src	breast:	n/a	n/a
24	STAT3	chr13:62002628-62002630	MCF10A-Er-Src	breast:	n/a	n/a

(count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr13:62002989-62003039	Hela-S3	cervix:	n/a
2	chr13:62002989-62003039	Hela-S3	cervix:	n/a
3	chr13:62002615-62002665	IMR90	lung:	fetal
4	chr13:62002615-62002665	HRPEpiC	eye:	n/a
5	chr13:62002989-62003039	SK-N-MC	brain:	n/a
6	chr13:62002615-62002665	GM12892	blood:	n/a
7	chr13:62002989-62003039	SK-N-SH	brain:	n/a
8	chr13:62002989-62003039	AG04450	lung:	fetal
9	chr13:62002989-62003039	NH-A	brain:	n/a
10	chr13:62002615-62002665	PANC-1	pancreas:	n/a
11	chr13:62002989-62003039	MCF10A-Er-Src	breast:	n/a
12	chr13:62002615-62002665	CMK	blood:	n/a
13	chr13:62002615-62002665	PrEC	prostate:	n/a
14	chr13:62002615-62002665	Hepatocyte	liver:	n/a
15	chr13:62002615-62002665	AoSMC	blood vessel:	n/a
16	chr13:62002615-62002665	SK-N-SH	brain:	n/a
17	chr13:62002989-62003039	HCM	heart:	n/a
18	chr13:62002615-62002665	SK-N-SH_RA	brain:	n/a
19	chr13:62002615-62002665	SAEC	small airway:	n/a
20	chr13:62002989-62003039	GM12891	blood:	n/a
21	chr13:62002989-62003039	HRPEpiC	eye:	n/a
22	chr13:62002989-62003039	HepG2	liver:	n/a
23	chr13:62002989-62003039	HEK293	kidney:	embryo
24	chr13:62002615-62002665	MCF10A-Er-Src	breast:	n/a
25	chr13:62002989-62003039	HMEC	breast:	n/a
26	chr13:62002615-62002665	HPAEpiC	pulmonary alveolar:	n/a
27	chr13:62002989-62003039	HUVEC	blood vessel:	n/a
28	chr13:62002615-62002665	H1-hESC	embryonic stem cell:	embryo
29	chr13:62002989-62003039	ProgFib	skin:	n/a
30	chr13:62002615-62002665	MCF-7	breast:	n/a
31	chr13:62002615-62002665	U87	brain:	n/a
32	chr13:62002989-62003039	HCT-116	colon:	n/a
33	chr13:62002989-62003039	PFSK-1	brain:	n/a
34	chr13:62002989-62003039	SAEC	small airway:	n/a
35	chr13:62002615-62002665	HRCEpiC	kidney:	n/a
36	chr13:62002989-62003039	GM12878	blood:	n/a
37	chr13:62002989-62003039	IMR90	lung:	fetal
38	chr13:62002989-62003039	T-47D	breast:	n/a
39	chr13:62002989-62003039	MCF-7	breast:	n/a
40	chr13:62002615-62002665	GM12891	blood:	n/a
41	chr13:62002615-62002665	HL-60	blood:	n/a
42	chr13:62002615-62002665	PFSK-1	brain:	n/a
43	chr13:62002615-62002665	ProgFib	skin:	n/a
44	chr13:62002989-62003039	HCPEpiC	choroid plexus:	n/a
45	chr13:62002615-62002665	HAEpiC	amniotic membrane:	n/a
46	chr13:62002615-62002665	AG09309	skin:	n/a
47	chr13:62002615-62002665	Hela-S3	cervix:	n/a
48	chr13:62002989-62003039	H1-hESC	embryonic stem cell:	embryo
49	chr13:62002989-62003039	NB4	blood:	n/a
50	chr13:62002615-62002665	RPTEC	kidney:	n/a

No data

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PCDH20-11	chr13:62001626-62002220	NONHSAT034128

No data

Variant related genes	Relation type
PCDH20	TF binding region
PCDH20	CpG island

Extended variants
information (count: 100 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:100 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190995972	chr13:62001630-62001631	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs9539159	chr13:62001641-62001642	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs183353977	chr13:62001666-62001667	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs570109515	chr13:62001698-62001699	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs575351164	chr13:62001732-62001733	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs575519326	chr13:62001757-62001758	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs140814834	chr13:62001758-62001759	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs556825960	chr13:62001765-62001766	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs574986436	chr13:62001781-62001782	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs143378200	chr13:62001827-62001828	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs115253126	chr13:62001837-62001838	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs572609122	chr13:62001854-62001855	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs375150821	chr13:62001874-62001875	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs544090502	chr13:62001906-62001907	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs148382849	chr13:62001953-62001954	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs184942044	chr13:62002057-62002058	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs114295669	chr13:62002063-62002064	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs367656279	chr13:62002086-62002087	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs543402914	chr13:62002087-62002088	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs189748173	chr13:62002093-62002094	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs553065480	chr13:62002094-62002095	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs74631194	chr13:62002101-62002102	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs141503905	chr13:62002111-62002112	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs4445779	chr13:62002133-62002134	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs548397761	chr13:62002142-62002143	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
26	rs559892534	chr13:62002196-62002197	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
27	rs577352265	chr13:62002236-62002237	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs535760095	chr13:62002465-62002466	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs554436529	chr13:62002616-62002617	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
30	rs528564812	chr13:62002623-62002624	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
31	rs572678428	chr13:62002649-62002650	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
32	rs539981540	chr13:62002665-62002666	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
33	rs559955798	chr13:62003060-62003061	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs527492404	chr13:62003104-62003105	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs551906632	chr13:62003139-62003140	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs147283265	chr13:62003193-62003194	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs531275477	chr13:62003194-62003195	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs530840539	chr13:62003198-62003199	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs549783345	chr13:62003203-62003204	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs140670808	chr13:62003218-62003219	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs529641130	chr13:62003224-62003225	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs188426939	chr13:62003251-62003252	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs7335749	chr13:62003256-62003257	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs540057180	chr13:62003274-62003275	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs574015484	chr13:62003308-62003309	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs9592112	chr13:62003334-62003335	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs9592113	chr13:62003343-62003344	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs555777817	chr13:62003345-62003346	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs192874781	chr13:62003368-62003369	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs573940464	chr13:62003399-62003400	Inactive region	TF binding region	1 gene(s)	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
small cell lung cancer	20016488	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
Lung cancer	18438408	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
Esophageal squamous carcinoma	20200074	CNVD
Myelofibrosis	22110671	CNVD
Anaplastic thyroid cancer	18753363	CNVD
Bipolar disorder	19214233	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:62006400-62007000	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr13:62006400-62007000	Enhancers	iPS-20b Cell Line	embryonic stem cell

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