Variant report

Variant	nsv528613
Chromosome Location	chr7:62735470-62935337
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:258)
CpG islands
(count:732)
Chromatin interactive
region (count:0)
LncRNA
region (count:31)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:258 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr7:62833922-62834237	HepG2	liver:	n/a	chr7:62834069-62834080 chr7:62833977-62833988 chr7:62834068-62834081 chr7:62834070-62834079 chr7:62834068-62834079
2	CEBPB	chr7:62838327-62838602	HepG2	liver:	n/a	chr7:62838441-62838452
3	CTCF	chr7:62860989-62861072	GM13976	blood:	n/a	n/a
4	CTCF	chr7:62896898-62896950	GM10248	blood:	n/a	n/a
5	CTCF	chr7:62933439-62933503	GM13977	blood:	n/a	n/a
6	CTCF	chr7:62922101-62922180	LNCaP	prostate:	n/a	n/a
7	CTCF	chr7:62818117-62818214	LNCaP	prostate:	n/a	n/a
8	CTCF	chr7:62821291-62821362	ProgFib	skin:	n/a	n/a
9	CTCF	chr7:62892148-62892171	GM10248	blood:	n/a	n/a
10	CTCF	chr7:62894807-62894862	LNCaP	prostate:	n/a	n/a
11	CTCF	chr7:62815299-62815346	GM20000	blood:	n/a	n/a
12	CTCF	chr7:62864530-62864548	GM13976	blood:	n/a	n/a
13	CTCF	chr7:62775149-62775222	GM13976	blood:	n/a	n/a
14	CTCF	chr7:62801899-62801954	GM13976	blood:	n/a	n/a
15	CTCF	chr7:62877028-62877068	GM10248	blood:	n/a	n/a
16	CTCF	chr7:62759277-62759348	Fibrobl	skin:	n/a	n/a
17	CTCF	chr7:62860917-62860946	GM13977	blood:	n/a	n/a
18	CTCF	chr7:62865317-62865384	GM10248	blood:	n/a	n/a
19	CTCF	chr7:62905808-62905886	GM10266	blood:	n/a	n/a
20	CTCF	chr7:62872340-62872433	GM13976	blood:	n/a	n/a
21	CTCF	chr7:62878712-62878734	GM20000	blood:	n/a	n/a
22	CTCF	chr7:62849812-62849830	GM10266	blood:	n/a	n/a
23	CTCF	chr7:62901699-62901778	LNCaP	prostate:	n/a	n/a
24	CTCF	chr7:62914806-62914884	LNCaP	prostate:	n/a	n/a
25	CTCF	chr7:62845503-62845566	MCF-7	breast:	n/a	n/a
26	CTCF	chr7:62779054-62779071	LNCaP	prostate:	n/a	n/a
27	CTCF	chr7:62803249-62803281	LNCaP	prostate:	n/a	n/a
28	CTCF	chr7:62920510-62920628	GM13976	blood:	n/a	n/a
29	CTCF	chr7:62857762-62857839	GM10248	blood:	n/a	n/a
30	CTCF	chr7:62823479-62823699	Medullo	brain:	n/a	chr7:62823598-62823619
31	CTCF	chr7:62913112-62913123	GM20000	blood:	n/a	n/a
32	CTCF	chr7:62921053-62921128	LNCaP	prostate:	n/a	n/a
33	CTCF	chr7:62874193-62874236	Fibrobl	skin:	n/a	n/a
34	CTCF	chr7:62877917-62877958	Kidney_OC	kidney:	n/a	n/a
35	CTCF	chr7:62860077-62860275	GM12878	blood:	n/a	n/a
36	CTCF	chr7:62843083-62843110	GM13977	blood:	n/a	n/a
37	CTCF	chr7:62867097-62867185	GM10248	blood:	n/a	n/a
38	CTCF	chr7:62746350-62746427	Lung_OC	lung:	n/a	n/a
39	CTCF	chr7:62887950-62888039	GM20000	blood:	n/a	n/a
40	CTCF	chr7:62807622-62807700	LNCaP	prostate:	n/a	n/a
41	CTCF	chr7:62813803-62813865	LNCaP	prostate:	n/a	n/a
42	CTCF	chr7:62903513-62903588	LNCaP	prostate:	n/a	n/a
43	CTCF	chr7:62894791-62894835	GM13976	blood:	n/a	n/a
44	CTCF	chr7:62893195-62893245	LNCaP	prostate:	n/a	n/a
45	CTCF	chr7:62865375-62865433	Fibrobl	skin:	n/a	n/a
46	CTCF	chr7:62862347-62862374	Pancreas_OC	pancreas:	n/a	n/a
47	CTCF	chr7:62812050-62812075	LNCaP	prostate:	n/a	n/a
48	CTCF	chr7:62785168-62785244	LNCaP	prostate:	n/a	n/a
49	CTCF	chr7:62845172-62845381	Medullo	brain:	n/a	chr7:62845252-62845273
50	CTCF	chr7:62754676-62754781	Medullo	brain:	n/a	n/a

(count:732 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:62765329-62765379	SK-N-SH_RA	brain:	n/a
2	chr7:62765320-62765370	ProgFib	skin:	n/a
3	chr7:62809373-62809423	HCT-116	colon:	n/a
4	chr7:62809373-62809423	HMEC	breast:	n/a
5	chr7:62859557-62859607	ovcar-3	ovarian:	n/a
6	chr7:62904398-62904448	GM19239	blood:	n/a
7	chr7:62765329-62765379	SK-N-SH	brain:	n/a
8	chr7:62762850-62762900	CMK	blood:	n/a
9	chr7:62859227-62859277	PFSK-1	brain:	n/a
10	chr7:62809321-62809371	HRE	kidney:	n/a
11	chr7:62765320-62765370	HEK293	kidney:	embryo
12	chr7:62859557-62859607	HNPCEpiC	eye:	n/a
13	chr7:62809321-62809371	HL-60	blood:	n/a
14	chr7:62762850-62762900	GM12878	blood:	n/a
15	chr7:62809321-62809371	ovcar-3	ovarian:	n/a
16	chr7:62809373-62809423	Hela-S3	cervix:	n/a
17	chr7:62809373-62809423	PFSK-1	brain:	n/a
18	chr7:62809373-62809423	AG09319	gingival:	n/a
19	chr7:62809373-62809423	HepG2	liver:	n/a
20	chr7:62809620-62809670	AG04449	skin:	fetal
21	chr7:62809331-62809381	HNPCEpiC	eye:	n/a
22	chr7:62762850-62762900	HEK293	kidney:	embryo
23	chr7:62859493-62859543	HMEC	breast:	n/a
24	chr7:62762850-62762900	MCF-7	breast:	n/a
25	chr7:62762850-62762900	AG09319	gingival:	n/a
26	chr7:62765320-62765370	HCT-116	colon:	n/a
27	chr7:62809373-62809423	SK-N-MC	brain:	n/a
28	chr7:62859535-62859585	PFSK-1	brain:	n/a
29	chr7:62904398-62904448	GM06990	blood:	n/a
30	chr7:62859227-62859277	AG09319	gingival:	n/a
31	chr7:62859535-62859585	Caco-2	colon:	n/a
32	chr7:62904398-62904448	Hepatocyte	liver:	n/a
33	chr7:62765320-62765370	GM06990	blood:	n/a
34	chr7:62859493-62859543	Hela-S3	cervix:	n/a
35	chr7:62859493-62859543	CMK	blood:	n/a
36	chr7:62809331-62809381	Hela-S3	cervix:	n/a
37	chr7:62859535-62859585	BJ	skin:	n/a
38	chr7:62859227-62859277	T-47D	breast:	n/a
39	chr7:62809321-62809371	U87	brain:	n/a
40	chr7:62859535-62859585	Hepatocyte	liver:	n/a
41	chr7:62762850-62762900	HUVEC	blood vessel:	n/a
42	chr7:62859557-62859607	A549	lung:	n/a
43	chr7:62765329-62765379	HUVEC	blood vessel:	n/a
44	chr7:62765320-62765370	SK-N-SH	brain:	n/a
45	chr7:62859535-62859585	IMR90	lung:	fetal
46	chr7:62904398-62904448	GM12878	blood:	n/a
47	chr7:62765329-62765379	AG04450	lung:	fetal
48	chr7:62765329-62765379	HMEC	breast:	n/a
49	chr7:62809373-62809423	HL-60	blood:	n/a
50	chr7:62904398-62904448	HCF	heart:	n/a

No data

(count:31 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF680-6	chr7:62853183-62853347	ENSG00000232817
2	lnc-ZNF680-42	chr7:62758642-62758770	NONHSAT120900
3	lnc-AC006455.1-6	chr7:62803089-62803578	NONHSAT120902
4	lnc-ZNF680-41	chr7:62827805-62828534	NONHSAT120908
5	lnc-ZNF680-7	chr7:62846111-62846167	ENSG00000230600
6	lnc-ZNF680-42	chr7:62764328-62764434	NONHSAT120899
7	lnc-AC006455.1-2	chr7:62819441-62819684	ENSG00000229301
8	lnc-AC006455.1-4	chr7:62881602-62881901	ENSG00000227305.1
9	lnc-AC006455.1-2	chr7:62837707-62838611	NONHSAT120909
10	lnc-ZNF680-42	chr7:62758644-62758770	NONHSAT120899
11	lnc-AC006455.1-2	chr7:62814835-62814953	ENSG00000229301
12	lnc-ZNF680-6	chr7:62853917-62854035	ENSG00000232817
13	lnc-AC006455.1-2	chr7:62838106-62838187	NONHSAT120910
14	lnc-ZNF680-42	chr7:62751670-62753201	NONHSAT120899
15	lnc-AC006455.1-4	chr7:62854166-62854245	ENSG00000227305.1
16	lnc-ZNF680-7	chr7:62840844-62841125	ENSG00000230600
17	lnc-ZNF680-38	chr7:62865220-62865778	NONHSAT120918
18	lnc-AC006455.1-4	chr7:62882314-62882424	ENSG00000227305.1
19	lnc-AC006455.1-4	chr7:62862320-62862529	ENSG00000227305.1
20	lnc-ZNF680-8	chr7:62787052-62787278	ENSG00000226587.1
21	lnc-AC006455.1-2	chr7:62841163-62841193	NONHSAT120910
22	lnc-ZNF680-8	chr7:62806338-62806547	ENSG00000226587.1
23	lnc-AC006455.1-2	chr7:62815523-62815687	ENSG00000229301
24	lnc-ZNF680-42	chr7:62764328-62764366	NONHSAT120900
25	lnc-ZNF680-6	chr7:62849186-62849429	ENSG00000232817
26	lnc-ZNF680-8	chr7:62814625-62814704	ENSG00000226587.1
27	lnc-ZNF680-40	chr7:62854127-62854487	NONHSAT120913
28	lnc-ZNF680-42	chr7:62758071-62758166	NONHSAT120900
29	lnc-ZNF680-42	chr7:62751896-62753204	NONHSAT120900
30	lnc-AC006455.1-2	chr7:62838321-62838411	NONHSAT120910
31	lnc-AC006455.1-2	chr7:62814411-62814743	NONHSAT120906

No data

Variant related genes	Relation type
ENSG00000223889	TF binding region
ENSG00000232817	TF binding region
VN1R32P	TF binding region
ENSG00000230000	TF binding region
ENSG00000226587	TF binding region
ZNF733P	TF binding region
ZNF734P	TF binding region
ENSG00000230600	TF binding region
ENSG00000227545	TF binding region
ENSG00000234387	TF binding region
ENSG00000227305	TF binding region
ENSG00000229301	TF binding region
ENSG00000227923	TF binding region
ENSG00000227298	TF binding region
ENSG00000268181	TF binding region
SLC25A1P2	TF binding region
VN1R33P	TF binding region
ENSG00000224368	TF binding region
ENSG00000232165	TF binding region
VN1R31P	TF binding region
ENSG00000223889	CpG island
ENSG00000232817	CpG island
VN1R32P	CpG island
ENSG00000230000	CpG island
ENSG00000226587	CpG island
ZNF733P	CpG island
ZNF734P	CpG island
ENSG00000230600	CpG island
ENSG00000227545	CpG island
ENSG00000234387	CpG island
ENSG00000227305	CpG island
ENSG00000229301	CpG island
ENSG00000227923	CpG island
ENSG00000227298	CpG island
ENSG00000268181	CpG island
SLC25A1P2	CpG island
VN1R33P	CpG island
ENSG00000224368	CpG island
ENSG00000232165	CpG island
VN1R31P	CpG island

Extended variants
information (count: 353 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:353 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555601198	chr7:62751707-62751708	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs572453346	chr7:62751710-62751711	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs541272502	chr7:62751734-62751735	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs558428734	chr7:62751742-62751743	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs578214425	chr7:62751750-62751751	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs544163826	chr7:62751773-62751774	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs563939571	chr7:62751775-62751776	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs201663496	chr7:62751816-62751817	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs519715	chr7:62751827-62751828	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs201385479	chr7:62751851-62751852	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs541763493	chr7:62751919-62751920	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs561639006	chr7:62751940-62751941	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs578237993	chr7:62751949-62751950	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs540973753	chr7:62751952-62751953	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs527423044	chr7:62751991-62751992	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs547087978	chr7:62751993-62751994	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs267601548	chr7:62752007-62752008	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs570339682	chr7:62752031-62752032	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs532945209	chr7:62752033-62752034	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs549679590	chr7:62752041-62752042	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs201463436	chr7:62752048-62752049	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs202182010	chr7:62752069-62752070	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs535481533	chr7:62752100-62752101	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs267601549	chr7:62752180-62752181	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs555690103	chr7:62752216-62752217	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs565923510	chr7:62752227-62752228	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs535164721	chr7:62752268-62752269	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs575694456	chr7:62752276-62752277	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs199774235	chr7:62752291-62752292	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs368763207	chr7:62752318-62752319	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs190494410	chr7:62752321-62752322	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
32	rs544006918	chr7:62752328-62752329	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
33	rs557693593	chr7:62752352-62752353	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
34	rs574234953	chr7:62752374-62752375	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
35	rs193098931	chr7:62752410-62752411	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
36	rs373405087	chr7:62752415-62752416	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
37	rs368825314	chr7:62752416-62752417	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
38	rs561771226	chr7:62752425-62752426	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
39	rs527272583	chr7:62752428-62752429	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
40	rs540760429	chr7:62752431-62752432	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
41	rs372167638	chr7:62752443-62752444	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
42	rs563803094	chr7:62752472-62752473	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
43	rs200313949	chr7:62752487-62752488	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
44	rs201283679	chr7:62752491-62752492	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
45	rs532981664	chr7:62752528-62752529	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
46	rs368381867	chr7:62752570-62752571	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
47	rs549518176	chr7:62752587-62752588	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
48	rs569858072	chr7:62752626-62752627	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
49	rs529224508	chr7:62752657-62752658	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
50	rs549002352	chr7:62752676-62752677	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17170743	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Follicular lymphoma	20505157	CNVD
Biliary cancer	19435499	CNVD
Williams-beuren syndrome	22470819	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Glioblastoma	21080181	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Astrocytoma	22246337	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16461572	CNVD
Salivary gland tumor	18059337	CNVD
Multiple myeloma	17550852	CNVD
Acute myeloid leukemia	21251322	CNVD
Schizophrenia	20967226	CNVD
Schizophrenia	21346763	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:62829000-62831200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
2	chr7:62836000-62838400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
3	chr7:62919400-62920000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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