Variant report

Variant	nsv977251
Chromosome Location	chr13:64385372-64407800
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:61)
CpG islands
(count:305)
Chromatin interactive
region (count:0)
LncRNA
region (count:8)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:61 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CHD2	chr13:64385983-64386021	K562	blood:	n/a	n/a
2	CTCF	chr13:64403872-64403970	ProgFib	skin:	n/a	n/a
3	CTCF	chr13:64401620-64401694	LNCaP	prostate:	n/a	n/a
4	CTCF	chr13:64403833-64404058	Medullo	brain:	n/a	n/a
5	CTCF	chr13:64388087-64388090	MCF-7	breast:	n/a	n/a
6	CTCF	chr13:64403878-64404005	Pancreas_OC	pancreas:	n/a	n/a
7	CTCF	chr13:64403857-64403983	A549	lung:	n/a	n/a
8	CTCF	chr13:64403881-64403963	GM19239	blood:	n/a	n/a
9	CTCF	chr13:64403844-64403981	MCF-7	breast:	n/a	n/a
10	CTCF	chr13:64403850-64403990	HepG2	liver:	n/a	n/a
11	CTCF	chr13:64388099-64388105	MCF-7	breast:	n/a	n/a
12	CTCF	chr13:64403855-64404062	Kidney_OC	kidney:	n/a	n/a
13	CTCF	chr13:64401607-64401618	LNCaP	prostate:	n/a	n/a
14	CTCF	chr13:64403895-64403950	GM19238	blood:	n/a	n/a
15	CTCF	chr13:64388066-64388097	MCF-7	breast:	n/a	n/a
16	CTCF	chr13:64403790-64404080	Gliobla	brain:	n/a	n/a
17	CTCF	chr13:64403800-64404103	LNCaP	prostate:	n/a	n/a
18	CTCF	chr13:64403234-64403280	LNCaP	prostate:	n/a	n/a
19	CTCF	chr13:64403886-64403996	GM10266	blood:	n/a	n/a
20	CTCF	chr13:64403849-64403978	MCF-7	breast:	n/a	n/a
21	CTCF	chr13:64403897-64403955	H1-hESC	embryonic stem cell:	n/a	n/a
22	CTCF	chr13:64403903-64404008	GM10248	blood:	n/a	n/a
23	CTCF	chr13:64388012-64388076	MCF-7	breast:	n/a	n/a
24	CTCF	chr13:64403878-64404020	GM13977	blood:	n/a	n/a
25	CTCF	chr13:64403828-64403986	Fibrobl	skin:	n/a	n/a
26	CTCF	chr13:64403907-64404012	HUVEC	blood vessel:	n/a	n/a
27	CTCF	chr13:64403812-64404067	MCF-7	breast:	n/a	n/a
28	CTCF	chr13:64403823-64404050	MCF-7	breast:	n/a	n/a
29	CTCF	chr13:64403881-64404014	GM13976	blood:	n/a	n/a
30	CTCF	chr13:64403852-64404060	Hela-S3	cervix:	n/a	n/a
31	CTCF	chr13:64403919-64404032	GM20000	blood:	n/a	n/a
32	CTCF	chr13:64403936-64403999	Spleen_OC	spleen:	n/a	n/a
33	CTCF	chr13:64403767-64404058	A549	lung:	n/a	n/a
34	CTCF	chr13:64404781-64404867	LNCaP	prostate:	n/a	n/a
35	CTCF	chr13:64403870-64403967	GM19240	blood:	n/a	n/a
36	CTCF	chr13:64403907-64403977	K562	blood:	n/a	n/a
37	CTCF	chr13:64403861-64403981	MCF-7	breast:	n/a	n/a
38	CTCF	chr13:64388076-64388141	Fibrobl	skin:	n/a	n/a
39	CTCF	chr13:64403826-64404065	LNCaP	prostate:	n/a	n/a
40	EBF1	chr13:64403727-64403940	GM12878	blood:	n/a	n/a
41	FOXA1	chr13:64403737-64404171	HepG2	liver:	n/a	n/a
42	MYC	chr13:64385703-64385806	MCF-7	breast:	n/a	n/a
43	MYC	chr13:64388059-64388131	MCF-7	breast:	n/a	n/a
44	MYC	chr13:64387981-64388168	MCF-7	breast:	n/a	n/a
45	MYC	chr13:64388017-64388123	MCF-7	breast:	n/a	n/a
46	MYC	chr13:64387999-64388196	MCF-7	breast:	n/a	n/a
47	PAX5	chr13:64403833-64404029	GM12878	blood:	n/a	n/a
48	POLR2A	chr13:64388625-64388642	H1-hESC	embryonic stem cell:	n/a	n/a
49	POLR2A	chr13:64387859-64387865	ProgFib	skin:	n/a	n/a
50	POLR2A	chr13:64387940-64388242	MCF-7	breast:	n/a	n/a

(count:305 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr13:64385881-64385931	H1-hESC	embryonic stem cell:	embryo
2	chr13:64386291-64386341	Caco-2	colon:	n/a
3	chr13:64388106-64388156	HNPCEpiC	eye:	n/a
4	chr13:64388106-64388156	HCT-116	colon:	n/a
5	chr13:64385720-64385770	ProgFib	skin:	n/a
6	chr13:64385720-64385770	LNCaP	prostate:	n/a
7	chr13:64386020-64386070	HMEC	breast:	n/a
8	chr13:64388106-64388156	HAEpiC	amniotic membrane:	n/a
9	chr13:64388106-64388156	Jurkat	blood:	n/a
10	chr13:64386020-64386070	RPTEC	kidney:	n/a
11	chr13:64385720-64385770	BJ	skin:	n/a
12	chr13:64385881-64385931	LNCaP	prostate:	n/a
13	chr13:64385720-64385770	RPTEC	kidney:	n/a
14	chr13:64385881-64385931	AG04450	lung:	fetal
15	chr13:64388106-64388156	AG09319	gingival:	n/a
16	chr13:64386020-64386070	HCT-116	colon:	n/a
17	chr13:64385881-64385931	AG09309	skin:	n/a
18	chr13:64385720-64385770	HAEpiC	amniotic membrane:	n/a
19	chr13:64385881-64385931	HPAEpiC	pulmonary alveolar:	n/a
20	chr13:64386020-64386070	HUVEC	blood vessel:	n/a
21	chr13:64385720-64385770	NHBE	bronchial:	n/a
22	chr13:64388106-64388156	HIPEpiC	eye:	n/a
23	chr13:64386291-64386341	H1-hESC	embryonic stem cell:	embryo
24	chr13:64385881-64385931	NB4	blood:	n/a
25	chr13:64386291-64386341	Hepatocyte	liver:	n/a
26	chr13:64388106-64388156	IMR90	lung:	fetal
27	chr13:64386291-64386341	RPTEC	kidney:	n/a
28	chr13:64386020-64386070	HepG2	liver:	n/a
29	chr13:64388106-64388156	U87	brain:	n/a
30	chr13:64388106-64388156	SK-N-SH	brain:	n/a
31	chr13:64385881-64385931	HEK293	kidney:	embryo
32	chr13:64386020-64386070	CMK	blood:	n/a
33	chr13:64386291-64386341	SK-N-SH	brain:	n/a
34	chr13:64388106-64388156	AG10803	skin:	n/a
35	chr13:64385881-64385931	GM12891	blood:	n/a
36	chr13:64385881-64385931	HRE	kidney:	n/a
37	chr13:64385881-64385931	ovcar-3	ovarian:	n/a
38	chr13:64385881-64385931	HAEpiC	amniotic membrane:	n/a
39	chr13:64386020-64386070	NT2-D1	testis:	n/a
40	chr13:64386291-64386341	PFSK-1	brain:	n/a
41	chr13:64385881-64385931	HEEpiC	esophagus:	n/a
42	chr13:64386020-64386070	HRPEpiC	eye:	n/a
43	chr13:64388106-64388156	MCF10A-Er-Src	breast:	n/a
44	chr13:64385720-64385770	BE2_C	brain:	n/a
45	chr13:64385720-64385770	HEK293	kidney:	embryo
46	chr13:64386291-64386341	HCF	heart:	n/a
47	chr13:64388106-64388156	SKMC	muscle:	n/a
48	chr13:64388106-64388156	GM06990	blood:	n/a
49	chr13:64388106-64388156	HL-60	blood:	n/a
50	chr13:64386291-64386341	AG09309	skin:	n/a

No data

(count:8 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PCDH20-10	chr13:64405587-64405660	NONHSAT034181
2	lnc-PCDH20-10	chr13:64402967-64403285	NONHSAT034181
3	lnc-PCDH20-10	chr13:64402973-64403285	ENSG00000219926.6
4	lnc-PCDH20-10	chr13:64403127-64403285	NONHSAT034184
5	lnc-PCDH20-10	chr13:64402902-64403292	ENSG00000219926.3
6	lnc-PCDH20-10	chr13:64405587-64405985	NONHSAT034184
7	lnc-PCDH20-10	chr13:64405587-64405985	ENSG00000219926.6
8	lnc-PCDH20-10	chr13:64405587-64405985	ENSG00000219926.3

No data

Variant related genes	Relation type
ENSG00000219926	TF binding region
PPP1R2P10	TF binding region
OR7E104P	TF binding region
ENSG00000219926	CpG island
PPP1R2P10	CpG island
OR7E104P	CpG island

Extended variants
information (count: 80 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:80 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537551482	chr13:64385405-64385406	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs549249862	chr13:64385445-64385446	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs3818376	chr13:64385475-64385476	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs3818375	chr13:64385478-64385479	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs555316861	chr13:64385504-64385505	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs573790864	chr13:64385508-64385509	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs540780942	chr13:64385511-64385512	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs3818374	chr13:64385517-64385518	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs3818373	chr13:64385535-64385536	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs373151513	chr13:64385558-64385559	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs552871667	chr13:64385565-64385566	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs577482111	chr13:64385572-64385573	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs544639326	chr13:64385580-64385581	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs563271242	chr13:64385606-64385607	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs12429435	chr13:64385632-64385633	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs184212752	chr13:64385642-64385643	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs368481556	chr13:64385668-64385669	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs371986433	chr13:64385679-64385680	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs3818372	chr13:64385686-64385687	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs201427763	chr13:64385703-64385704	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs3818371	chr13:64385708-64385709	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs188770572	chr13:64385733-64385734	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs547979450	chr13:64385740-64385741	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs117140569	chr13:64385754-64385755	Active TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
25	rs533649924	chr13:64385812-64385813	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs140541480	chr13:64385814-64385815	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs570025472	chr13:64385822-64385823	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs537013383	chr13:64385828-64385829	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs549462438	chr13:64385935-64385936	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs567627751	chr13:64385946-64385947	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs534524030	chr13:64385956-64385957	Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs552735106	chr13:64385983-64385984	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs577544660	chr13:64385992-64385993	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs538543128	chr13:64386002-64386003	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs556720894	chr13:64386014-64386015	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs575204217	chr13:64386015-64386016	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs191447401	chr13:64386048-64386049	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
38	rs561057401	chr13:64386067-64386068	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
39	rs184966658	chr13:64387901-64387902	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs201167502	chr13:64387907-64387908	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs369478291	chr13:64387908-64387909	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs528470009	chr13:64387910-64387911	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs139552771	chr13:64387963-64387964	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs374893835	chr13:64388011-64388012	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs3916094	chr13:64388015-64388016	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs532481065	chr13:64388076-64388077	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs550778065	chr13:64388088-64388089	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs189631666	chr13:64388099-64388100	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs529858120	chr13:64388100-64388101	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs548508551	chr13:64388106-64388107	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:96)

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
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:64384200-64386000	Active TSS	HUES6 Cell Line	embryonic stem cell

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