Variant report

Variant	nsv1016970
Chromosome Location	chr7:62619341-62849388
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:232)
CpG islands
(count:549)
Chromatin interactive
region (count:0)
LncRNA
region (count:26)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:232 , 50 per page) page: 1 2 3 4 5

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	CEBPB	chr7:62668778-62669023	MCF-7	breast:	n/a	n/a
4	CEBPB	chr7:62718407-62718562	A549	lung:	n/a	chr7:62718492-62718509
5	CEBPB	chr7:62668869-62669111	MCF-7	breast:	n/a	n/a
6	CEBPB	chr7:62718347-62718604	IMR90	lung:	n/a	chr7:62718492-62718509
7	CEBPB	chr7:62716889-62717216	IMR90	lung:	n/a	chr7:62717050-62717059 chr7:62717120-62717131
8	CTCF	chr7:62803249-62803281	LNCaP	prostate:	n/a	n/a
9	CTCF	chr7:62808915-62809017	GM20000	blood:	n/a	n/a
10	CTCF	chr7:62685275-62685285	Lung_OC	lung:	n/a	n/a
11	CTCF	chr7:62696773-62696804	GM10248	blood:	n/a	n/a
12	CTCF	chr7:62807622-62807700	LNCaP	prostate:	n/a	n/a
13	CTCF	chr7:62845503-62845566	MCF-7	breast:	n/a	n/a
14	CTCF	chr7:62682954-62683027	LNCaP	prostate:	n/a	n/a
15	CTCF	chr7:62823294-62823337	Kidney_OC	kidney:	n/a	n/a
16	CTCF	chr7:62707366-62707390	LNCaP	prostate:	n/a	n/a
17	CTCF	chr7:62645355-62645405	Hela-S3	cervix:	n/a	n/a
18	CTCF	chr7:62775149-62775222	GM13976	blood:	n/a	n/a
19	CTCF	chr7:62637605-62637661	GM10248	blood:	n/a	n/a
20	CTCF	chr7:62785168-62785244	LNCaP	prostate:	n/a	n/a
21	CTCF	chr7:62823479-62823699	Medullo	brain:	n/a	chr7:62823598-62823619
22	CTCF	chr7:62744588-62744630	Lung_OC	lung:	n/a	n/a
23	CTCF	chr7:62696872-62696878	GM10248	blood:	n/a	n/a
24	CTCF	chr7:62714991-62715054	GM13977	blood:	n/a	n/a
25	CTCF	chr7:62692546-62692664	Lung_OC	lung:	n/a	n/a
26	CTCF	chr7:62812050-62812075	LNCaP	prostate:	n/a	n/a
27	CTCF	chr7:62696645-62696680	GM10248	blood:	n/a	n/a
28	CTCF	chr7:62795021-62795075	Medullo	brain:	n/a	n/a
29	CTCF	chr7:62759277-62759348	Fibrobl	skin:	n/a	n/a
30	CTCF	chr7:62815299-62815346	GM20000	blood:	n/a	n/a
31	CTCF	chr7:62818811-62818868	LNCaP	prostate:	n/a	n/a
32	CTCF	chr7:62794591-62794619	Lung_OC	lung:	n/a	n/a
33	CTCF	chr7:62845172-62845381	Medullo	brain:	n/a	chr7:62845252-62845273
34	CTCF	chr7:62848040-62848055	GM10248	blood:	n/a	n/a
35	CTCF	chr7:62813803-62813865	LNCaP	prostate:	n/a	n/a
36	CTCF	chr7:62716111-62716220	LNCaP	prostate:	n/a	n/a
37	CTCF	chr7:62696886-62696897	GM10248	blood:	n/a	n/a
38	CTCF	chr7:62769829-62769855	GM20000	blood:	n/a	n/a
39	CTCF	chr7:62730176-62730188	LNCaP	prostate:	n/a	n/a
40	CTCF	chr7:62689768-62689846	GM13977	blood:	n/a	n/a
41	CTCF	chr7:62811395-62811459	GM20000	blood:	n/a	n/a
42	CTCF	chr7:62821291-62821362	ProgFib	skin:	n/a	n/a
43	CTCF	chr7:62686230-62686254	K562	blood:	n/a	chr7:62686232-62686248
44	CTCF	chr7:62679676-62679693	Kidney_OC	kidney:	n/a	n/a
45	CTCF	chr7:62801899-62801954	GM13976	blood:	n/a	n/a
46	CTCF	chr7:62791054-62791114	Medullo	brain:	n/a	n/a
47	CTCF	chr7:62686160-62686310	WERI-Rb-1	eye:	n/a	chr7:62686232-62686248
48	CTCF	chr7:62776198-62776226	GM13976	blood:	n/a	n/a
49	CTCF	chr7:62843083-62843110	GM13977	blood:	n/a	n/a
50	CTCF	chr7:62758372-62758416	LNCaP	prostate:	n/a	n/a

(count:549 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:62765320-62765370	HRCEpiC	kidney:	n/a
2	chr7:62762850-62762900	SK-N-MC	brain:	n/a
3	chr7:62693631-62693681	HCPEpiC	choroid plexus:	n/a
4	chr7:62765320-62765370	NHBE	bronchial:	n/a
5	chr7:62765320-62765370	HEEpiC	esophagus:	n/a
6	chr7:62809373-62809423	AG09309	skin:	n/a
7	chr7:62762850-62762900	SKMC	muscle:	n/a
8	chr7:62693610-62693660	HEK293	kidney:	embryo
9	chr7:62762850-62762900	MCF10A-Er-Src	breast:	n/a
10	chr7:62693631-62693681	GM12878	blood:	n/a
11	chr7:62693631-62693681	K562	blood:	n/a
12	chr7:62693631-62693681	HRCEpiC	kidney:	n/a
13	chr7:62762850-62762900	BJ	skin:	n/a
14	chr7:62765329-62765379	NB4	blood:	n/a
15	chr7:62809620-62809670	ovcar-3	ovarian:	n/a
16	chr7:62693631-62693681	HepG2	liver:	n/a
17	chr7:62809373-62809423	HAEpiC	amniotic membrane:	n/a
18	chr7:62809321-62809371	Hela-S3	cervix:	n/a
19	chr7:62809620-62809670	NHDF-neo	bronchial:	n/a
20	chr7:62765320-62765370	NH-A	brain:	n/a
21	chr7:62762850-62762900	AG09319	gingival:	n/a
22	chr7:62762850-62762900	ProgFib	skin:	n/a
23	chr7:62809331-62809381	NT2-D1	testis:	n/a
24	chr7:62809331-62809381	U87	brain:	n/a
25	chr7:62809373-62809423	AoSMC	blood vessel:	n/a
26	chr7:62809321-62809371	MCF-7	breast:	n/a
27	chr7:62809620-62809670	K562	blood:	n/a
28	chr7:62693610-62693660	HPAEpiC	pulmonary alveolar:	n/a
29	chr7:62809331-62809381	NHDF-neo	bronchial:	n/a
30	chr7:62693631-62693681	ECC-1	luminal epithelium:	n/a
31	chr7:62765329-62765379	Hepatocyte	liver:	n/a
32	chr7:62765320-62765370	HCF	heart:	n/a
33	chr7:62765320-62765370	GM12891	blood:	n/a
34	chr7:62809331-62809381	HIPEpiC	eye:	n/a
35	chr7:62809331-62809381	MCF10A-Er-Src	breast:	n/a
36	chr7:62809620-62809670	HIPEpiC	eye:	n/a
37	chr7:62765329-62765379	PANC-1	pancreas:	n/a
38	chr7:62809331-62809381	ECC-1	luminal epithelium:	n/a
39	chr7:62809331-62809381	GM12878	blood:	n/a
40	chr7:62765320-62765370	HIPEpiC	eye:	n/a
41	chr7:62809620-62809670	Hepatocyte	liver:	n/a
42	chr7:62693610-62693660	GM19239	blood:	n/a
43	chr7:62809321-62809371	GM12878	blood:	n/a
44	chr7:62765320-62765370	LNCaP	prostate:	n/a
45	chr7:62762850-62762900	HEEpiC	esophagus:	n/a
46	chr7:62809331-62809381	SAEC	small airway:	n/a
47	chr7:62809331-62809381	AG10803	skin:	n/a
48	chr7:62809331-62809381	K562	blood:	n/a
49	chr7:62693610-62693660	AG10803	skin:	n/a
50	chr7:62762850-62762900	GM06990	blood:	n/a

No data

(count:26 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF680-42	chr7:62751670-62753201	NONHSAT120899
2	lnc-AC006455.1-2	chr7:62838321-62838411	NONHSAT120910
3	lnc-AC006455.1-2	chr7:62838106-62838187	NONHSAT120910
4	lnc-AC006455.1-6	chr7:62803089-62803578	NONHSAT120902
5	lnc-ZNF680-41	chr7:62827805-62828534	NONHSAT120908
6	lnc-AC006455.1-2	chr7:62819441-62819684	ENSG00000229301
7	lnc-AC006455.1-2	chr7:62837707-62838611	NONHSAT120909
8	lnc-ZNF680-42	chr7:62764328-62764366	NONHSAT120900
9	lnc-AC006455.1-2	chr7:62815523-62815687	ENSG00000229301
10	lnc-ZNF680-7	chr7:62846111-62846167	ENSG00000230600
11	lnc-ZNF680-42	chr7:62758642-62758770	NONHSAT120900
12	lnc-AC006455.1-2	chr7:62841163-62841193	NONHSAT120910
13	lnc-AC006455.1-2	chr7:62814835-62814953	ENSG00000229301
14	lnc-ZNF680-8	chr7:62806338-62806547	ENSG00000226587.1
15	lnc-ZNF680-42	chr7:62751896-62753204	NONHSAT120900
16	lnc-AC006455.1-7	chr7:62723443-62723834	NONHSAT120898
17	lnc-ZNF680-8	chr7:62787052-62787278	ENSG00000226587.1
18	lnc-AC006455.1-8	chr7:62672054-62672200	NONHSAT120895
19	lnc-ZNF680-8	chr7:62814625-62814704	ENSG00000226587.1
20	lnc-AC006455.1-2	chr7:62814411-62814743	NONHSAT120906
21	lnc-AC006455.1-8	chr7:62669597-62669710	NONHSAT120895
22	lnc-ZNF680-7	chr7:62840844-62841125	ENSG00000230600
23	lnc-ZNF680-42	chr7:62764328-62764434	NONHSAT120899
24	lnc-ZNF680-42	chr7:62758071-62758166	NONHSAT120900
25	lnc-ZNF680-42	chr7:62758644-62758770	NONHSAT120899
26	lnc-ZNF680-6	chr7:62849186-62849429	ENSG00000232817

No data

Variant related genes	Relation type
ENSG00000230600	TF binding region
ENSG00000227545	TF binding region
ENSG00000227305	TF binding region
ENSG00000229301	TF binding region
ENSG00000199231	TF binding region
PHKG1P1	TF binding region
ENSG00000227923	TF binding region
ENSG00000231523	TF binding region
ENSG00000227298	TF binding region
ENSG00000244550	TF binding region
ENSG00000236638	TF binding region
SEPT7P4	TF binding region
VN1R32P	TF binding region
ENSG00000230000	TF binding region
ENSG00000232165	TF binding region
ENSG00000237572	TF binding region
ENSG00000226587	TF binding region
VN1R31P	TF binding region
ZNF733P	TF binding region
ENSG00000230600	CpG island
ENSG00000227545	CpG island
ENSG00000227305	CpG island
ENSG00000229301	CpG island
ENSG00000199231	CpG island
PHKG1P1	CpG island
ENSG00000227923	CpG island
ENSG00000231523	CpG island
ENSG00000227298	CpG island
ENSG00000244550	CpG island
ENSG00000236638	CpG island
SEPT7P4	CpG island
VN1R32P	CpG island
ENSG00000230000	CpG island
ENSG00000232165	CpG island
ENSG00000237572	CpG island
ENSG00000226587	CpG island
VN1R31P	CpG island
ZNF733P	CpG island

Extended variants
information (count: 688 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:688 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532651213	chr7:62637350-62637351	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs145928065	chr7:62637365-62637366	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs62475681	chr7:62637380-62637381	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs572981915	chr7:62637391-62637392	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs553867216	chr7:62639044-62639045	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs182292330	chr7:62639300-62639301	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs370101267	chr7:62639301-62639302	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs201186111	chr7:62639306-62639307	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs186916489	chr7:62639330-62639331	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs192743041	chr7:62639348-62639349	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs561959892	chr7:62639391-62639392	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs527962122	chr7:62639440-62639441	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs541737277	chr7:62639489-62639490	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs536058283	chr7:62639490-62639491	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs189057911	chr7:62639523-62639524	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs532171155	chr7:62639524-62639525	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs552209391	chr7:62639525-62639526	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs539768366	chr7:62639550-62639551	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs568923877	chr7:62639564-62639565	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs557229314	chr7:62639583-62639584	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs572589860	chr7:62640060-62640061	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs570750398	chr7:62640061-62640062	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs539409600	chr7:62640080-62640081	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs141566308	chr7:62640083-62640084	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs576102251	chr7:62640100-62640101	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs535585762	chr7:62640106-62640107	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs540100583	chr7:62640140-62640141	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs540360554	chr7:62645642-62645643	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs190321366	chr7:62645658-62645659	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs151003804	chr7:62645676-62645677	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs373125503	chr7:62645682-62645683	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs375209739	chr7:62645686-62645687	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs554198945	chr7:62645751-62645752	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs551593436	chr7:62645754-62645755	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs138745338	chr7:62645770-62645771	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs545959534	chr7:62645786-62645787	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs12164127	chr7:62645798-62645799	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs576315152	chr7:62645803-62645804	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs542541328	chr7:62645816-62645817	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs117147808	chr7:62645845-62645846	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs182918010	chr7:62645868-62645869	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs546280691	chr7:62645871-62645872	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs560259869	chr7:62645919-62645920	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs187950117	chr7:62645960-62645961	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs193008949	chr7:62645970-62645971	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs371060953	chr7:62646009-62646010	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs569100576	chr7:62646013-62646014	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs537746728	chr7:62646023-62646024	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs184244655	chr7:62646048-62646049	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs188013820	chr7:62646085-62646086	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:62645600-62646200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr7:62651400-62652400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:62661200-62662800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr7:62661600-62663000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
5	chr7:62665600-62666200	Active TSS	Fetal Heart	heart
6	chr7:62677400-62678400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
7	chr7:62694200-62694600	ZNF genes & repeats	Gastric	stomach
8	chr7:62829000-62831200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
9	chr7:62836000-62838400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell

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