Variant report

Variant	nsv966813
Chromosome Location	chr7:62843152-62983788
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:150)
CpG islands
(count:305)
Chromatin interactive
region (count:0)
LncRNA
region (count:11)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:150 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr7:62947754-62947800	HepG2	liver:	n/a	chr7:62947771-62947780
2	CEBPB	chr7:62947600-62947804	IMR90	lung:	n/a	chr7:62947771-62947780 chr7:62947699-62947710
3	CTCF	chr7:62954374-62954399	Lung_OC	lung:	n/a	n/a
4	CTCF	chr7:62865652-62865676	GM13976	blood:	n/a	n/a
5	CTCF	chr7:62865375-62865433	Fibrobl	skin:	n/a	n/a
6	CTCF	chr7:62874674-62874771	ProgFib	skin:	n/a	n/a
7	CTCF	chr7:62920510-62920628	GM13976	blood:	n/a	n/a
8	CTCF	chr7:62913112-62913123	GM20000	blood:	n/a	n/a
9	CTCF	chr7:62877028-62877068	GM10248	blood:	n/a	n/a
10	CTCF	chr7:62901699-62901778	LNCaP	prostate:	n/a	n/a
11	CTCF	chr7:62903513-62903588	LNCaP	prostate:	n/a	n/a
12	CTCF	chr7:62922318-62922416	Kidney_OC	kidney:	n/a	n/a
13	CTCF	chr7:62907855-62907886	LNCaP	prostate:	n/a	n/a
14	CTCF	chr7:62956904-62956941	GM10248	blood:	n/a	n/a
15	CTCF	chr7:62874193-62874236	Fibrobl	skin:	n/a	n/a
16	CTCF	chr7:62901174-62901225	LNCaP	prostate:	n/a	n/a
17	CTCF	chr7:62887950-62888039	GM20000	blood:	n/a	n/a
18	CTCF	chr7:62976900-62977050	GM12873	blood:	n/a	n/a
19	CTCF	chr7:62896898-62896950	GM10248	blood:	n/a	n/a
20	CTCF	chr7:62921053-62921128	LNCaP	prostate:	n/a	n/a
21	CTCF	chr7:62876460-62876488	Kidney_OC	kidney:	n/a	n/a
22	CTCF	chr7:62865317-62865384	GM10248	blood:	n/a	n/a
23	CTCF	chr7:62954340-62954371	ProgFib	skin:	n/a	n/a
24	CTCF	chr7:62940006-62940109	Lung_OC	lung:	n/a	n/a
25	CTCF	chr7:62894791-62894835	GM13976	blood:	n/a	n/a
26	CTCF	chr7:62960388-62960442	Lung_OC	lung:	n/a	n/a
27	CTCF	chr7:62894807-62894862	LNCaP	prostate:	n/a	n/a
28	CTCF	chr7:62864530-62864548	GM13976	blood:	n/a	n/a
29	CTCF	chr7:62857762-62857839	GM10248	blood:	n/a	n/a
30	CTCF	chr7:62860077-62860275	GM12878	blood:	n/a	n/a
31	CTCF	chr7:62873195-62873278	LNCaP	prostate:	n/a	n/a
32	CTCF	chr7:62975003-62975047	Lung_OC	lung:	n/a	n/a
33	CTCF	chr7:62921343-62921411	Kidney_OC	kidney:	n/a	n/a
34	CTCF	chr7:62872302-62872379	GM20000	blood:	n/a	n/a
35	CTCF	chr7:62867097-62867185	GM10248	blood:	n/a	n/a
36	CTCF	chr7:62872340-62872433	GM13976	blood:	n/a	n/a
37	CTCF	chr7:62874271-62874317	ProgFib	skin:	n/a	n/a
38	CTCF	chr7:62933439-62933503	GM13977	blood:	n/a	n/a
39	CTCF	chr7:62877917-62877958	Kidney_OC	kidney:	n/a	n/a
40	CTCF	chr7:62893195-62893245	LNCaP	prostate:	n/a	n/a
41	CTCF	chr7:62870321-62870377	GM13976	blood:	n/a	n/a
42	CTCF	chr7:62902789-62902848	GM10248	blood:	n/a	n/a
43	CTCF	chr7:62940666-62940706	GM13977	blood:	n/a	n/a
44	CTCF	chr7:62905808-62905886	GM10266	blood:	n/a	n/a
45	CTCF	chr7:62892148-62892171	GM10248	blood:	n/a	n/a
46	CTCF	chr7:62945315-62945403	Lung_OC	lung:	n/a	n/a
47	CTCF	chr7:62878712-62878734	GM20000	blood:	n/a	n/a
48	CTCF	chr7:62975129-62975164	GM13976	blood:	n/a	n/a
49	CTCF	chr7:62922101-62922180	LNCaP	prostate:	n/a	n/a
50	CTCF	chr7:62936267-62936315	LNCaP	prostate:	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	chr7:62859227-62859277	ECC-1	luminal epithelium:	n/a
2	chr7:62859535-62859585	NH-A	brain:	n/a
3	chr7:62904398-62904448	PFSK-1	brain:	n/a
4	chr7:62859535-62859585	GM19239	blood:	n/a
5	chr7:62859535-62859585	HepG2	liver:	n/a
6	chr7:62859227-62859277	HMEC	breast:	n/a
7	chr7:62859493-62859543	Hepatocyte	liver:	n/a
8	chr7:62904398-62904448	GM12891	blood:	n/a
9	chr7:62859493-62859543	HCM	heart:	n/a
10	chr7:62859557-62859607	ProgFib	skin:	n/a
11	chr7:62859535-62859585	PANC-1	pancreas:	n/a
12	chr7:62904398-62904448	HMEC	breast:	n/a
13	chr7:62859493-62859543	HIPEpiC	eye:	n/a
14	chr7:62859557-62859607	ovcar-3	ovarian:	n/a
15	chr7:62859557-62859607	AG09309	skin:	n/a
16	chr7:62859493-62859543	ProgFib	skin:	n/a
17	chr7:62859535-62859585	ovcar-3	ovarian:	n/a
18	chr7:62904398-62904448	AG09319	gingival:	n/a
19	chr7:62904398-62904448	AG10803	skin:	n/a
20	chr7:62859557-62859607	PrEC	prostate:	n/a
21	chr7:62859493-62859543	AG10803	skin:	n/a
22	chr7:62859493-62859543	Jurkat	blood:	n/a
23	chr7:62859535-62859585	AG04449	skin:	fetal
24	chr7:62859535-62859585	MCF-7	breast:	n/a
25	chr7:62904398-62904448	U87	brain:	n/a
26	chr7:62859557-62859607	HCT-116	colon:	n/a
27	chr7:62859535-62859585	CMK	blood:	n/a
28	chr7:62859557-62859607	SK-N-SH	brain:	n/a
29	chr7:62859557-62859607	AG10803	skin:	n/a
30	chr7:62859557-62859607	HL-60	blood:	n/a
31	chr7:62904398-62904448	HNPCEpiC	eye:	n/a
32	chr7:62859227-62859277	BJ	skin:	n/a
33	chr7:62859227-62859277	GM19239	blood:	n/a
34	chr7:62859493-62859543	HRE	kidney:	n/a
35	chr7:62859227-62859277	GM12878	blood:	n/a
36	chr7:62859535-62859585	BE2_C	brain:	n/a
37	chr7:62859227-62859277	A549	lung:	n/a
38	chr7:62904398-62904448	HepG2	liver:	n/a
39	chr7:62904398-62904448	NT2-D1	testis:	n/a
40	chr7:62859227-62859277	Hela-S3	cervix:	n/a
41	chr7:62904398-62904448	HPAEpiC	pulmonary alveolar:	n/a
42	chr7:62904398-62904448	HCT-116	colon:	n/a
43	chr7:62859557-62859607	HIPEpiC	eye:	n/a
44	chr7:62859557-62859607	LNCaP	prostate:	n/a
45	chr7:62859535-62859585	HL-60	blood:	n/a
46	chr7:62859535-62859585	GM12892	blood:	n/a
47	chr7:62904398-62904448	GM06990	blood:	n/a
48	chr7:62859227-62859277	H1-hESC	embryonic stem cell:	embryo
49	chr7:62859227-62859277	AG10803	skin:	n/a
50	chr7:62904398-62904448	SK-N-SH	brain:	n/a

No data

(count:11 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC006455.1-4	chr7:62882314-62882424	ENSG00000227305.1
2	lnc-ZNF680-37	chr7:62940976-62941367	NONHSAT120919
3	lnc-ZNF680-6	chr7:62853183-62853347	ENSG00000232817
4	lnc-ZNF680-40	chr7:62854127-62854487	NONHSAT120913
5	lnc-ZNF680-6	chr7:62849186-62849429	ENSG00000232817
6	lnc-ZNF680-7	chr7:62846111-62846167	ENSG00000230600
7	lnc-ZNF680-6	chr7:62853917-62854035	ENSG00000232817
8	lnc-AC006455.1-4	chr7:62862320-62862529	ENSG00000227305.1
9	lnc-ZNF680-38	chr7:62865220-62865778	NONHSAT120918
10	lnc-AC006455.1-4	chr7:62881602-62881901	ENSG00000227305.1
11	lnc-AC006455.1-4	chr7:62854166-62854245	ENSG00000227305.1

No data

Variant related genes	Relation type
ENSG00000223889	TF binding region
ENSG00000232817	TF binding region
ZNF734P	TF binding region
ENSG00000230600	TF binding region
ENSG00000234387	TF binding region
ENSG00000227305	TF binding region
SEPT7P5	TF binding region
ENSG00000268181	TF binding region
SLC25A1P2	TF binding region
ENSG00000230132	TF binding region
VN1R33P	TF binding region
ENSG00000224368	TF binding region
PHKG1P2	TF binding region
ENSG00000223889	CpG island
ENSG00000232817	CpG island
ZNF734P	CpG island
ENSG00000230600	CpG island
ENSG00000234387	CpG island
ENSG00000227305	CpG island
SEPT7P5	CpG island
ENSG00000268181	CpG island
SLC25A1P2	CpG island
ENSG00000230132	CpG island
VN1R33P	CpG island
ENSG00000224368	CpG island
PHKG1P2	CpG island

Extended variants
information (count: 58 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:58 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2908300	chr7:62859530-62859531	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
2	rs191493034	chr7:62860094-62860095	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs13437629	chr7:62860193-62860194	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs201957863	chr7:62865340-62865341	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
5	rs201691428	chr7:62865378-62865379	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
6	rs571056791	chr7:62865398-62865399	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
7	rs539995726	chr7:62865428-62865429	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
8	rs556783654	chr7:62865629-62865630	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs570408125	chr7:62865728-62865729	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
10	rs559502638	chr7:62919409-62919410	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs573214743	chr7:62919449-62919450	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs545265205	chr7:62919474-62919475	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs638479	chr7:62919587-62919588	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs799514	chr7:62919598-62919599	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs183018777	chr7:62919648-62919649	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs187636317	chr7:62919690-62919691	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs193209745	chr7:62919707-62919708	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs528974821	chr7:62919723-62919724	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs549234130	chr7:62919742-62919743	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs565846145	chr7:62919781-62919782	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs185631021	chr7:62919791-62919792	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs187392488	chr7:62919799-62919800	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs11977542	chr7:62919826-62919827	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs144751872	chr7:62919838-62919839	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs151210618	chr7:62919842-62919843	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs10258553	chr7:62919844-62919845	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs813886	chr7:62919846-62919847	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs557323355	chr7:62919849-62919850	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs192289248	chr7:62919920-62919921	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs77854737	chr7:62919931-62919932	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs77886537	chr7:62919932-62919933	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs184075614	chr7:62919938-62919939	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs551640020	chr7:62940981-62940982	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
34	rs182071511	chr7:62941025-62941026	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
35	rs187602615	chr7:62941033-62941034	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
36	rs528123049	chr7:62941085-62941086	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
37	rs556138828	chr7:62941088-62941089	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
38	rs569703103	chr7:62941096-62941097	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
39	rs193224413	chr7:62941125-62941126	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
40	rs555547013	chr7:62941176-62941177	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
41	rs375757803	chr7:62941220-62941221	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
42	rs540216484	chr7:62941265-62941266	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
43	rs562246147	chr7:62941279-62941280	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
44	rs541231091	chr7:62941287-62941288	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
45	rs557641456	chr7:62941288-62941289	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
46	rs577885755	chr7:62941317-62941318	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
47	rs10240860	chr7:62941320-62941321	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
48	rs573747192	chr7:62941322-62941323	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
49	rs34093219	chr7:62941338-62941339	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
50	rs560513483	chr7:62944412-62944413	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:62919400-62920000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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