Variant report

Variant	nsv888229
Chromosome Location	chr7:62705018-62803332
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:85)
CpG islands
(count:183)
Chromatin interactive
region (count:0)
LncRNA
region (count:10)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:85 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr7:62716889-62717216	IMR90	lung:	n/a	chr7:62717050-62717059 chr7:62717120-62717131
2	CEBPB	chr7:62718347-62718604	IMR90	lung:	n/a	chr7:62718492-62718509
3	CEBPB	chr7:62718407-62718562	A549	lung:	n/a	chr7:62718492-62718509
4	CTCF	chr7:62791054-62791114	Medullo	brain:	n/a	n/a
5	CTCF	chr7:62759277-62759348	Fibrobl	skin:	n/a	n/a
6	CTCF	chr7:62794591-62794619	Lung_OC	lung:	n/a	n/a
7	CTCF	chr7:62769829-62769855	GM20000	blood:	n/a	n/a
8	CTCF	chr7:62776198-62776226	GM13976	blood:	n/a	n/a
9	CTCF	chr7:62801899-62801954	GM13976	blood:	n/a	n/a
10	CTCF	chr7:62795021-62795075	Medullo	brain:	n/a	n/a
11	CTCF	chr7:62716111-62716220	LNCaP	prostate:	n/a	n/a
12	CTCF	chr7:62779054-62779071	LNCaP	prostate:	n/a	n/a
13	CTCF	chr7:62730176-62730188	LNCaP	prostate:	n/a	n/a
14	CTCF	chr7:62744588-62744630	Lung_OC	lung:	n/a	n/a
15	CTCF	chr7:62773741-62773792	LNCaP	prostate:	n/a	n/a
16	CTCF	chr7:62775149-62775222	GM13976	blood:	n/a	n/a
17	CTCF	chr7:62707366-62707390	LNCaP	prostate:	n/a	n/a
18	CTCF	chr7:62714991-62715054	GM13977	blood:	n/a	n/a
19	CTCF	chr7:62746350-62746427	Lung_OC	lung:	n/a	n/a
20	CTCF	chr7:62785168-62785244	LNCaP	prostate:	n/a	n/a
21	CTCF	chr7:62754676-62754781	Medullo	brain:	n/a	n/a
22	CTCF	chr7:62803249-62803281	LNCaP	prostate:	n/a	n/a
23	CTCF	chr7:62758372-62758416	LNCaP	prostate:	n/a	n/a
24	JUN	chr7:62706148-62706392	HepG2	liver:	n/a	chr7:62706284-62706297 chr7:62706288-62706297
25	JUND	chr7:62706154-62706445	HepG2	liver:	n/a	chr7:62706288-62706297
26	KAP1	chr7:62751950-62752150	K562	blood:	n/a	n/a
27	KAP1	chr7:62752393-62752711	K562	blood:	n/a	n/a
28	MYC	chr7:62784002-62784017	MCF-7	breast:	n/a	n/a
29	MYC	chr7:62784018-62784028	MCF-7	breast:	n/a	n/a
30	MYC	chr7:62800720-62800782	MCF-7	breast:	n/a	n/a
31	MYC	chr7:62800788-62800789	MCF-7	breast:	n/a	n/a
32	MYC	chr7:62749373-62749448	MCF-7	breast:	n/a	n/a
33	MYC	chr7:62774766-62774799	Hela-S3	cervix:	n/a	n/a
34	POLR2A	chr7:62791847-62791864	A549	lung:	n/a	n/a
35	POLR2A	chr7:62788779-62788919	A549	lung:	n/a	n/a
36	POLR2A	chr7:62788696-62788920	MCF-7	breast:	n/a	n/a
37	POLR2A	chr7:62760190-62760236	A549	lung:	n/a	n/a
38	POLR2A	chr7:62795776-62795785	MCF-7	breast:	n/a	n/a
39	POLR2A	chr7:62775246-62775267	Gliobla	brain:	n/a	n/a
40	POLR2A	chr7:62788685-62788914	MCF-7	breast:	n/a	n/a
41	POLR2A	chr7:62730241-62730367	ProgFib	skin:	n/a	n/a
42	POLR2A	chr7:62803250-62803325	MCF-7	breast:	n/a	n/a
43	POLR2A	chr7:62749379-62749392	A549	lung:	n/a	n/a
44	POLR2A	chr7:62707637-62708099	H1-hESC	embryonic stem cell:	n/a	n/a
45	POLR2A	chr7:62778277-62778378	Gliobla	brain:	n/a	n/a
46	POLR2A	chr7:62735644-62735677	Gliobla	brain:	n/a	n/a
47	POLR2A	chr7:62735558-62735631	Gliobla	brain:	n/a	n/a
48	POLR2A	chr7:62795715-62795740	A549	lung:	n/a	n/a
49	POLR2A	chr7:62801772-62801907	A549	lung:	n/a	n/a
50	POLR2A	chr7:62755313-62755353	A549	lung:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:62762850-62762900	BE2_C	brain:	n/a
2	chr7:62762850-62762900	HCT-116	colon:	n/a
3	chr7:62765320-62765370	HUVEC	blood vessel:	n/a
4	chr7:62762850-62762900	RPTEC	kidney:	n/a
5	chr7:62762850-62762900	AoSMC	blood vessel:	n/a
6	chr7:62762850-62762900	Jurkat	blood:	n/a
7	chr7:62762850-62762900	SAEC	small airway:	n/a
8	chr7:62765329-62765379	HRCEpiC	kidney:	n/a
9	chr7:62765320-62765370	NHBE	bronchial:	n/a
10	chr7:62765329-62765379	GM19239	blood:	n/a
11	chr7:62765329-62765379	PANC-1	pancreas:	n/a
12	chr7:62762850-62762900	HCPEpiC	choroid plexus:	n/a
13	chr7:62765329-62765379	SAEC	small airway:	n/a
14	chr7:62765320-62765370	ovcar-3	ovarian:	n/a
15	chr7:62765329-62765379	HUVEC	blood vessel:	n/a
16	chr7:62762850-62762900	SK-N-SH	brain:	n/a
17	chr7:62765329-62765379	CMK	blood:	n/a
18	chr7:62762850-62762900	MCF-7	breast:	n/a
19	chr7:62765329-62765379	PrEC	prostate:	n/a
20	chr7:62765320-62765370	MCF-7	breast:	n/a
21	chr7:62765320-62765370	AG09319	gingival:	n/a
22	chr7:62765320-62765370	NT2-D1	testis:	n/a
23	chr7:62762850-62762900	AG04449	skin:	fetal
24	chr7:62765329-62765379	AG09309	skin:	n/a
25	chr7:62762850-62762900	Hepatocyte	liver:	n/a
26	chr7:62765329-62765379	BE2_C	brain:	n/a
27	chr7:62765320-62765370	HCT-116	colon:	n/a
28	chr7:62765320-62765370	CMK	blood:	n/a
29	chr7:62765329-62765379	HMEC	breast:	n/a
30	chr7:62765329-62765379	GM06990	blood:	n/a
31	chr7:62765329-62765379	ECC-1	luminal epithelium:	n/a
32	chr7:62765320-62765370	HRE	kidney:	n/a
33	chr7:62765329-62765379	IMR90	lung:	fetal
34	chr7:62765329-62765379	Caco-2	colon:	n/a
35	chr7:62765320-62765370	AG04449	skin:	fetal
36	chr7:62765329-62765379	HIPEpiC	eye:	n/a
37	chr7:62762850-62762900	CMK	blood:	n/a
38	chr7:62765320-62765370	HRCEpiC	kidney:	n/a
39	chr7:62762850-62762900	HCM	heart:	n/a
40	chr7:62765320-62765370	HCF	heart:	n/a
41	chr7:62762850-62762900	Hela-S3	cervix:	n/a
42	chr7:62765329-62765379	HRE	kidney:	n/a
43	chr7:62762850-62762900	HPAEpiC	pulmonary alveolar:	n/a
44	chr7:62765329-62765379	A549	lung:	n/a
45	chr7:62762850-62762900	GM12891	blood:	n/a
46	chr7:62765320-62765370	LNCaP	prostate:	n/a
47	chr7:62765320-62765370	Hela-S3	cervix:	n/a
48	chr7:62765329-62765379	LNCaP	prostate:	n/a
49	chr7:62765329-62765379	NB4	blood:	n/a
50	chr7:62765320-62765370	AG10803	skin:	n/a

No data

(count:10 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF680-42	chr7:62764328-62764434	NONHSAT120899
2	lnc-ZNF680-42	chr7:62758644-62758770	NONHSAT120899
3	lnc-ZNF680-42	chr7:62758071-62758166	NONHSAT120900
4	lnc-ZNF680-42	chr7:62751670-62753201	NONHSAT120899
5	lnc-ZNF680-8	chr7:62787052-62787278	ENSG00000226587.1
6	lnc-ZNF680-42	chr7:62764328-62764366	NONHSAT120900
7	lnc-ZNF680-42	chr7:62758642-62758770	NONHSAT120900
8	lnc-AC006455.1-6	chr7:62803089-62803578	NONHSAT120902
9	lnc-AC006455.1-7	chr7:62723443-62723834	NONHSAT120898
10	lnc-ZNF680-42	chr7:62751896-62753204	NONHSAT120900

No data

Variant related genes	Relation type
ENSG00000227298	TF binding region
ENSG00000244550	TF binding region
ENSG00000236638	TF binding region
SEPT7P4	TF binding region
ENSG00000232165	TF binding region
ZNF733P	TF binding region
ENSG00000227298	CpG island
ENSG00000244550	CpG island
ENSG00000236638	CpG island
SEPT7P4	CpG island
ENSG00000232165	CpG island
ZNF733P	CpG island

Extended variants
information (count: 125 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:125 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550664890	chr7:62706180-62706181	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs2871906	chr7:62706186-62706187	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs190438096	chr7:62706207-62706208	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs561078260	chr7:62706246-62706247	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs529994847	chr7:62706256-62706257	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs180851293	chr7:62706264-62706265	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs560518056	chr7:62706327-62706328	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs185163407	chr7:62706338-62706339	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs376038396	chr7:62706343-62706344	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs556142287	chr7:62706356-62706357	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs539191307	chr7:62706368-62706369	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs191051895	chr7:62706380-62706381	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs143367359	chr7:62706381-62706382	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs207467982	chr7:62706413-62706414	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs532079894	chr7:62718453-62718454	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs541000172	chr7:62718454-62718455	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs575952073	chr7:62718455-62718456	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs568916691	chr7:62718477-62718478	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs373839153	chr7:62718544-62718545	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs552870362	chr7:62723461-62723462	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs566781781	chr7:62723472-62723473	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs4602762	chr7:62723473-62723474	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs575754238	chr7:62723500-62723501	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs143831080	chr7:62723522-62723523	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs555134485	chr7:62723523-62723524	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs537076262	chr7:62723535-62723536	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs556702068	chr7:62723536-62723537	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs111735691	chr7:62723540-62723541	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs4472401	chr7:62723553-62723554	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs540841152	chr7:62723566-62723567	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs10271898	chr7:62723614-62723615	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs182420526	chr7:62723615-62723616	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
33	rs4483049	chr7:62723626-62723627	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
34	rs546136147	chr7:62723632-62723633	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
35	rs562841628	chr7:62723633-62723634	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
36	rs530467362	chr7:62723640-62723641	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
37	rs369587509	chr7:62723643-62723644	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
38	rs188126937	chr7:62723727-62723728	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
39	rs550145718	chr7:62723733-62723734	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
40	rs28372384	chr7:62723749-62723750	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
41	rs182759909	chr7:62723752-62723753	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
42	rs59809164	chr7:62723753-62723754	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
43	rs566500517	chr7:62723762-62723763	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
44	rs7785148	chr7:62723787-62723788	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
45	rs4475376	chr7:62723788-62723789	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
46	rs189019795	chr7:62723806-62723807	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
47	rs371159790	chr7:62723831-62723832	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
48	rs555601198	chr7:62751707-62751708	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
49	rs572453346	chr7:62751710-62751711	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
50	rs541272502	chr7:62751734-62751735	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

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

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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