Variant report

Variant	nsv900326
Chromosome Location	chr13:64310757-64411616
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:184)
CpG islands
(count:672)
Chromatin interactive
region (count:0)
LncRNA
region (count:24)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:184 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr13:64409212-64409411	IMR90	lung:	n/a	chr13:64409350-64409361
2	CEBPB	chr13:64313524-64313659	HepG2	liver:	n/a	chr13:64313555-64313566
3	CEBPB	chr13:64409210-64409420	A549	lung:	n/a	chr13:64409350-64409361
4	CEBPB	chr13:64409209-64409369	HepG2	liver:	n/a	chr13:64409350-64409361
5	CHD2	chr13:64385983-64386021	K562	blood:	n/a	n/a
6	CTCF	chr13:64338203-64338280	GM13976	blood:	n/a	n/a
7	CTCF	chr13:64324118-64324236	GM13977	blood:	n/a	n/a
8	CTCF	chr13:64388099-64388105	MCF-7	breast:	n/a	n/a
9	CTCF	chr13:64403812-64404067	MCF-7	breast:	n/a	n/a
10	CTCF	chr13:64338485-64338489	ProgFib	skin:	n/a	n/a
11	CTCF	chr13:64374170-64374211	Kidney_OC	kidney:	n/a	n/a
12	CTCF	chr13:64403895-64403950	GM19238	blood:	n/a	n/a
13	CTCF	chr13:64320841-64320933	LNCaP	prostate:	n/a	n/a
14	CTCF	chr13:64388066-64388097	MCF-7	breast:	n/a	n/a
15	CTCF	chr13:64324188-64324191	GM19240	blood:	n/a	n/a
16	CTCF	chr13:64324133-64324259	MCF-7	breast:	n/a	n/a
17	CTCF	chr13:64324142-64324254	A549	lung:	n/a	n/a
18	CTCF	chr13:64324097-64324217	Spleen_OC	spleen:	n/a	n/a
19	CTCF	chr13:64324126-64324196	HUVEC	blood vessel:	n/a	n/a
20	CTCF	chr13:64403936-64403999	Spleen_OC	spleen:	n/a	n/a
21	CTCF	chr13:64339091-64339163	Lung_OC	lung:	n/a	n/a
22	CTCF	chr13:64403903-64404008	GM10248	blood:	n/a	n/a
23	CTCF	chr13:64401607-64401618	LNCaP	prostate:	n/a	n/a
24	CTCF	chr13:64324079-64324211	Pancreas_OC	pancreas:	n/a	n/a
25	CTCF	chr13:64388012-64388076	MCF-7	breast:	n/a	n/a
26	CTCF	chr13:64403886-64403996	GM10266	blood:	n/a	n/a
27	CTCF	chr13:64338648-64338715	Kidney_OC	kidney:	n/a	n/a
28	CTCF	chr13:64330862-64330927	Medullo	brain:	n/a	n/a
29	CTCF	chr13:64320948-64321033	LNCaP	prostate:	n/a	n/a
30	CTCF	chr13:64403826-64404065	LNCaP	prostate:	n/a	n/a
31	CTCF	chr13:64401620-64401694	LNCaP	prostate:	n/a	n/a
32	CTCF	chr13:64324117-64324248	GM10266	blood:	n/a	n/a
33	CTCF	chr13:64403855-64404062	Kidney_OC	kidney:	n/a	n/a
34	CTCF	chr13:64330314-64330384	Kidney_OC	kidney:	n/a	n/a
35	CTCF	chr13:64403833-64404058	Medullo	brain:	n/a	n/a
36	CTCF	chr13:64403897-64403955	H1-hESC	embryonic stem cell:	n/a	n/a
37	CTCF	chr13:64334444-64334532	Spleen_OC	spleen:	n/a	n/a
38	CTCF	chr13:64324047-64324270	Medullo	brain:	n/a	n/a
39	CTCF	chr13:64324072-64324260	Hela-S3	cervix:	n/a	n/a
40	CTCF	chr13:64403872-64403970	ProgFib	skin:	n/a	n/a
41	CTCF	chr13:64312154-64312170	GM20000	blood:	n/a	n/a
42	CTCF	chr13:64377920-64378070	GM12869	blood:	n/a	n/a
43	CTCF	chr13:64324034-64324271	MCF-7	breast:	n/a	n/a
44	CTCF	chr13:64324052-64324317	LNCaP	prostate:	n/a	n/a
45	CTCF	chr13:64324125-64324255	Fibrobl	skin:	n/a	n/a
46	CTCF	chr13:64324050-64324261	MCF-7	breast:	n/a	n/a
47	CTCF	chr13:64403907-64403977	K562	blood:	n/a	n/a
48	CTCF	chr13:64403919-64404032	GM20000	blood:	n/a	n/a
49	CTCF	chr13:64403907-64404012	HUVEC	blood vessel:	n/a	n/a
50	CTCF	chr13:64324108-64324265	MCF-7	breast:	n/a	n/a

(count:672 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr13:64315383-64315433	PrEC	prostate:	n/a
2	chr13:64315383-64315433	PrEC	prostate:	n/a
3	chr13:64315383-64315433	AG09309	skin:	n/a
4	chr13:64384119-64384169	HRPEpiC	eye:	n/a
5	chr13:64384119-64384169	MCF-7	breast:	n/a
6	chr13:64385720-64385770	Hela-S3	cervix:	n/a
7	chr13:64408172-64408222	Jurkat	blood:	n/a
8	chr13:64384119-64384169	AG04449	skin:	fetal
9	chr13:64385720-64385770	RPTEC	kidney:	n/a
10	chr13:64408172-64408222	AG09319	gingival:	n/a
11	chr13:64385720-64385770	HCM	heart:	n/a
12	chr13:64385881-64385931	HCT-116	colon:	n/a
13	chr13:64382075-64382125	HNPCEpiC	eye:	n/a
14	chr13:64382075-64382125	RPTEC	kidney:	n/a
15	chr13:64408172-64408222	HCF	heart:	n/a
16	chr13:64311397-64311447	HEEpiC	esophagus:	n/a
17	chr13:64385881-64385931	SAEC	small airway:	n/a
18	chr13:64311397-64311447	AG10803	skin:	n/a
19	chr13:64386291-64386341	CMK	blood:	n/a
20	chr13:64311555-64311605	NHDF-neo	bronchial:	n/a
21	chr13:64385720-64385770	Jurkat	blood:	n/a
22	chr13:64311555-64311605	HCF	heart:	n/a
23	chr13:64386020-64386070	HRCEpiC	kidney:	n/a
24	chr13:64311397-64311447	RPTEC	kidney:	n/a
25	chr13:64311397-64311447	GM12891	blood:	n/a
26	chr13:64386291-64386341	HCPEpiC	choroid plexus:	n/a
27	chr13:64408172-64408222	HAEpiC	amniotic membrane:	n/a
28	chr13:64388106-64388156	SKMC	muscle:	n/a
29	chr13:64311555-64311605	BJ	skin:	n/a
30	chr13:64386020-64386070	NH-A	brain:	n/a
31	chr13:64386020-64386070	AG10803	skin:	n/a
32	chr13:64315383-64315433	AG04449	skin:	fetal
33	chr13:64388106-64388156	HMEC	breast:	n/a
34	chr13:64382075-64382125	AG04449	skin:	fetal
35	chr13:64385881-64385931	HRPEpiC	eye:	n/a
36	chr13:64385720-64385770	Caco-2	colon:	n/a
37	chr13:64388106-64388156	HRE	kidney:	n/a
38	chr13:64384119-64384169	SK-N-MC	brain:	n/a
39	chr13:64384119-64384169	A549	lung:	n/a
40	chr13:64388106-64388156	GM12878	blood:	n/a
41	chr13:64385881-64385931	U87	brain:	n/a
42	chr13:64315383-64315433	ECC-1	luminal epithelium:	n/a
43	chr13:64386291-64386341	AG04450	lung:	fetal
44	chr13:64385881-64385931	SK-N-SH_RA	brain:	n/a
45	chr13:64311555-64311605	ECC-1	luminal epithelium:	n/a
46	chr13:64388106-64388156	H1-hESC	embryonic stem cell:	embryo
47	chr13:64408172-64408222	A549	lung:	n/a
48	chr13:64386291-64386341	HRCEpiC	kidney:	n/a
49	chr13:64311555-64311605	U87	brain:	n/a
50	chr13:64386291-64386341	SK-N-SH_RA	brain:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AL445989.1-20	chr13:64314899-64315042	NONHSAT034174
2	lnc-PCDH20-10	chr13:64405587-64405660	NONHSAT034181
3	lnc-PCDH20-10	chr13:64405587-64405985	ENSG00000219926.6
4	lnc-AL445989.1-20	chr13:64316485-64316936	NONHSAT034174
5	lnc-PCDH20-9	chr13:64312042-64312151	XLOC_010643
6	lnc-PCDH20-10	chr13:64405587-64405985	NONHSAT034184
7	lnc-PCDH20-10	chr13:64402973-64403285	ENSG00000219926.6
8	lnc-AL445989.1-1	chr13:64322132-64322530	ENSG00000237378
9	lnc-AL445989.1-20	chr13:64313246-64314376	NONHSAT034175
10	lnc-PCDH20-10	chr13:64411124-64411575	NONHSAT034185
11	lnc-AL445989.1-21	chr13:64411166-64411589	NONHSAT034186
12	lnc-AL445989.1-20	chr13:64313246-64314310	NONHSAT034174
13	lnc-AL445989.1-1	chr13:64324837-64325213	ENSG00000237378
14	lnc-AL445989.1-20	chr13:64316485-64316936	NONHSAT034172
15	lnc-AL445989.1-20	chr13:64316498-64316945	NONHSAT034176
16	lnc-AL445989.1-20	chr13:64314899-64315042	NONHSAT034173
17	lnc-AL445989.1-20	chr13:64316485-64316936	NONHSAT034175
18	lnc-AL445989.1-20	chr13:64316485-64316936	NONHSAT034173
19	lnc-AL445989.1-20	chr13:64311843-64312482	NONHSAT034172
20	lnc-PCDH20-10	chr13:64402902-64403292	ENSG00000219926.3
21	lnc-PCDH20-10	chr13:64402967-64403285	NONHSAT034181
22	lnc-PCDH20-10	chr13:64405587-64405985	ENSG00000219926.3
23	lnc-PCDH20-10	chr13:64403127-64403285	NONHSAT034184
24	lnc-AL445989.1-20	chr13:64311843-64312416	NONHSAT034173

No data

Variant related genes	Relation type
LINC00395	TF binding region
ENSG00000226974	TF binding region
ENSG00000219926	TF binding region
PPP1R2P10	TF binding region
ENSG00000237378	TF binding region
RNU6-81P	TF binding region
OR7E104P	TF binding region
OR7E156P	TF binding region
LINC00395	CpG island
ENSG00000226974	CpG island
ENSG00000219926	CpG island
PPP1R2P10	CpG island
ENSG00000237378	CpG island
RNU6-81P	CpG island
OR7E104P	CpG island
OR7E156P	CpG island

Extended variants
information (count: 812 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:812 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141780600	chr13:64311513-64311514	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs142914652	chr13:64311524-64311525	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs376870178	chr13:64311556-64311557	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
4	rs563791996	chr13:64311558-64311559	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
5	rs111889006	chr13:64311561-64311562	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
6	rs576085829	chr13:64311575-64311576	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
7	rs573826467	chr13:64311632-64311633	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs143325226	chr13:64311633-64311634	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs372702173	chr13:64311639-64311640	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs543526664	chr13:64311658-64311659	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs561596230	chr13:64311676-64311677	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs192871817	chr13:64311677-64311678	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs7994030	chr13:64311684-64311685	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs560804718	chr13:64311691-64311692	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs140966098	chr13:64311694-64311695	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs570844622	chr13:64311706-64311707	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs531571506	chr13:64311707-64311708	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs550258335	chr13:64311711-64311712	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs568167290	chr13:64311712-64311713	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs535310477	chr13:64311713-64311714	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs553542259	chr13:64311717-64311718	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs185836160	chr13:64311718-64311719	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs539698177	chr13:64311719-64311720	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs557740236	chr13:64311737-64311738	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs556583087	chr13:64311740-64311741	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs527798125	chr13:64311743-64311744	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs190363282	chr13:64311757-64311758	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs555506529	chr13:64311775-64311776	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs573779688	chr13:64311777-64311778	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs547853684	chr13:64311853-64311854	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs180900610	chr13:64311886-64311887	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
32	rs373686336	chr13:64311893-64311894	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
33	rs184135108	chr13:64311894-64311895	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
34	rs547218741	chr13:64311907-64311908	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
35	rs577830255	chr13:64311915-64311916	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
36	rs376782868	chr13:64311917-64311918	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
37	rs539224639	chr13:64311921-64311922	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
38	rs561151137	chr13:64311946-64311947	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
39	rs73506739	chr13:64311954-64311955	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
40	rs138835307	chr13:64311962-64311963	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
41	rs537098773	chr13:64311987-64311988	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
42	rs188745440	chr13:64311991-64311992	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
43	rs534729046	chr13:64312005-64312006	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
44	rs553067237	chr13:64312008-64312009	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
45	rs140508558	chr13:64312022-64312023	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
46	rs546033458	chr13:64312028-64312029	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
47	rs144915692	chr13:64312029-64312030	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
48	rs576653958	chr13:64312038-64312039	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
49	rs543446460	chr13:64312040-64312041	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
50	rs561725073	chr13:64312080-64312081	Inactive region	lncRNA	n/a	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:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:64315400-64316200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
2	chr13:64347400-64348200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr13:64384200-64386000	Active TSS	HUES6 Cell Line	embryonic stem cell

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