Variant report

Variant	nsv888235
Chromosome Location	chr7:62803799-62944123
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:191)
CpG islands
(count:550)
Chromatin interactive
region (count:0)
LncRNA
region (count:23)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:191 , 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	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	chr7:62894807-62894862	LNCaP	prostate:	n/a	n/a
4	CTCF	chr7:62922318-62922416	Kidney_OC	kidney:	n/a	n/a
5	CTCF	chr7:62901174-62901225	LNCaP	prostate:	n/a	n/a
6	CTCF	chr7:62876460-62876488	Kidney_OC	kidney:	n/a	n/a
7	CTCF	chr7:62923700-62923783	Lung_OC	lung:	n/a	n/a
8	CTCF	chr7:62867097-62867185	GM10248	blood:	n/a	n/a
9	CTCF	chr7:62877917-62877958	Kidney_OC	kidney:	n/a	n/a
10	CTCF	chr7:62823294-62823337	Kidney_OC	kidney:	n/a	n/a
11	CTCF	chr7:62824296-62824327	MCF-7	breast:	n/a	n/a
12	CTCF	chr7:62864530-62864548	GM13976	blood:	n/a	n/a
13	CTCF	chr7:62818117-62818214	LNCaP	prostate:	n/a	n/a
14	CTCF	chr7:62865317-62865384	GM10248	blood:	n/a	n/a
15	CTCF	chr7:62913112-62913123	GM20000	blood:	n/a	n/a
16	CTCF	chr7:62902789-62902848	GM10248	blood:	n/a	n/a
17	CTCF	chr7:62872302-62872379	GM20000	blood:	n/a	n/a
18	CTCF	chr7:62940006-62940109	Lung_OC	lung:	n/a	n/a
19	CTCF	chr7:62849812-62849830	GM10266	blood:	n/a	n/a
20	CTCF	chr7:62848040-62848055	GM10248	blood:	n/a	n/a
21	CTCF	chr7:62855850-62855967	Medullo	brain:	n/a	n/a
22	CTCF	chr7:62914806-62914884	LNCaP	prostate:	n/a	n/a
23	CTCF	chr7:62860917-62860946	GM13977	blood:	n/a	n/a
24	CTCF	chr7:62874674-62874771	ProgFib	skin:	n/a	n/a
25	CTCF	chr7:62860989-62861072	GM13976	blood:	n/a	n/a
26	CTCF	chr7:62907855-62907886	LNCaP	prostate:	n/a	n/a
27	CTCF	chr7:62823479-62823699	Medullo	brain:	n/a	chr7:62823598-62823619
28	CTCF	chr7:62818811-62818868	LNCaP	prostate:	n/a	n/a
29	CTCF	chr7:62808915-62809017	GM20000	blood:	n/a	n/a
30	CTCF	chr7:62845172-62845381	Medullo	brain:	n/a	chr7:62845252-62845273
31	CTCF	chr7:62870321-62870377	GM13976	blood:	n/a	n/a
32	CTCF	chr7:62903513-62903588	LNCaP	prostate:	n/a	n/a
33	CTCF	chr7:62905808-62905886	GM10266	blood:	n/a	n/a
34	CTCF	chr7:62862347-62862374	Pancreas_OC	pancreas:	n/a	n/a
35	CTCF	chr7:62874193-62874236	Fibrobl	skin:	n/a	n/a
36	CTCF	chr7:62877028-62877068	GM10248	blood:	n/a	n/a
37	CTCF	chr7:62937433-62937511	LNCaP	prostate:	n/a	n/a
38	CTCF	chr7:62920510-62920628	GM13976	blood:	n/a	n/a
39	CTCF	chr7:62878712-62878734	GM20000	blood:	n/a	n/a
40	CTCF	chr7:62857762-62857839	GM10248	blood:	n/a	n/a
41	CTCF	chr7:62865375-62865433	Fibrobl	skin:	n/a	n/a
42	CTCF	chr7:62874271-62874317	ProgFib	skin:	n/a	n/a
43	CTCF	chr7:62922101-62922180	LNCaP	prostate:	n/a	n/a
44	CTCF	chr7:62821291-62821362	ProgFib	skin:	n/a	n/a
45	CTCF	chr7:62812050-62812075	LNCaP	prostate:	n/a	n/a
46	CTCF	chr7:62921343-62921411	Kidney_OC	kidney:	n/a	n/a
47	CTCF	chr7:62921053-62921128	LNCaP	prostate:	n/a	n/a
48	CTCF	chr7:62887950-62888039	GM20000	blood:	n/a	n/a
49	CTCF	chr7:62807622-62807700	LNCaP	prostate:	n/a	n/a
50	CTCF	chr7:62901699-62901778	LNCaP	prostate:	n/a	n/a

(count:550 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:62809321-62809371	Hela-S3	cervix:	n/a
2	chr7:62809321-62809371	Hela-S3	cervix:	n/a
3	chr7:62859227-62859277	PANC-1	pancreas:	n/a
4	chr7:62859535-62859585	H1-hESC	embryonic stem cell:	embryo
5	chr7:62859535-62859585	AG09319	gingival:	n/a
6	chr7:62859227-62859277	HepG2	liver:	n/a
7	chr7:62809331-62809381	BE2_C	brain:	n/a
8	chr7:62859535-62859585	GM12878	blood:	n/a
9	chr7:62904398-62904448	SK-N-SH	brain:	n/a
10	chr7:62859557-62859607	LNCaP	prostate:	n/a
11	chr7:62859535-62859585	HRPEpiC	eye:	n/a
12	chr7:62904398-62904448	GM19239	blood:	n/a
13	chr7:62859493-62859543	AG09309	skin:	n/a
14	chr7:62859227-62859277	HPAEpiC	pulmonary alveolar:	n/a
15	chr7:62809373-62809423	Jurkat	blood:	n/a
16	chr7:62859535-62859585	AG10803	skin:	n/a
17	chr7:62859227-62859277	RPTEC	kidney:	n/a
18	chr7:62859493-62859543	GM12878	blood:	n/a
19	chr7:62809331-62809381	U87	brain:	n/a
20	chr7:62809373-62809423	HUVEC	blood vessel:	n/a
21	chr7:62809321-62809371	HNPCEpiC	eye:	n/a
22	chr7:62859535-62859585	T-47D	breast:	n/a
23	chr7:62809331-62809381	NHBE	bronchial:	n/a
24	chr7:62859227-62859277	ovcar-3	ovarian:	n/a
25	chr7:62859227-62859277	AG04449	skin:	fetal
26	chr7:62809331-62809381	HEK293	kidney:	embryo
27	chr7:62809331-62809381	SK-N-SH	brain:	n/a
28	chr7:62809373-62809423	HEEpiC	esophagus:	n/a
29	chr7:62809331-62809381	GM19239	blood:	n/a
30	chr7:62809321-62809371	GM19239	blood:	n/a
31	chr7:62859557-62859607	AG09319	gingival:	n/a
32	chr7:62859493-62859543	SKMC	muscle:	n/a
33	chr7:62859557-62859607	GM12891	blood:	n/a
34	chr7:62809321-62809371	SK-N-MC	brain:	n/a
35	chr7:62859493-62859543	SK-N-SH_RA	brain:	n/a
36	chr7:62809321-62809371	SK-N-SH_RA	brain:	n/a
37	chr7:62904398-62904448	NHBE	bronchial:	n/a
38	chr7:62859535-62859585	BE2_C	brain:	n/a
39	chr7:62859227-62859277	Hepatocyte	liver:	n/a
40	chr7:62809331-62809381	HCT-116	colon:	n/a
41	chr7:62904398-62904448	HepG2	liver:	n/a
42	chr7:62859535-62859585	RPTEC	kidney:	n/a
43	chr7:62859535-62859585	Jurkat	blood:	n/a
44	chr7:62809331-62809381	AG04449	skin:	fetal
45	chr7:62809321-62809371	RPTEC	kidney:	n/a
46	chr7:62809620-62809670	NH-A	brain:	n/a
47	chr7:62859557-62859607	Hepatocyte	liver:	n/a
48	chr7:62859557-62859607	AG09309	skin:	n/a
49	chr7:62859557-62859607	SK-N-SH	brain:	n/a
50	chr7:62809373-62809423	SAEC	small airway:	n/a

No data

(count:23 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF680-41	chr7:62827805-62828534	NONHSAT120908
2	lnc-AC006455.1-4	chr7:62882314-62882424	ENSG00000227305.1
3	lnc-ZNF680-8	chr7:62806338-62806547	ENSG00000226587.1
4	lnc-AC006455.1-2	chr7:62841163-62841193	NONHSAT120910
5	lnc-ZNF680-6	chr7:62849186-62849429	ENSG00000232817
6	lnc-AC006455.1-2	chr7:62838321-62838411	NONHSAT120910
7	lnc-ZNF680-6	chr7:62853917-62854035	ENSG00000232817
8	lnc-AC006455.1-4	chr7:62862320-62862529	ENSG00000227305.1
9	lnc-AC006455.1-2	chr7:62814835-62814953	ENSG00000229301
10	lnc-ZNF680-38	chr7:62865220-62865778	NONHSAT120918
11	lnc-AC006455.1-2	chr7:62815523-62815687	ENSG00000229301
12	lnc-ZNF680-6	chr7:62853183-62853347	ENSG00000232817
13	lnc-AC006455.1-2	chr7:62814411-62814743	NONHSAT120906
14	lnc-ZNF680-40	chr7:62854127-62854487	NONHSAT120913
15	lnc-ZNF680-7	chr7:62840844-62841125	ENSG00000230600
16	lnc-ZNF680-37	chr7:62940976-62941367	NONHSAT120919
17	lnc-AC006455.1-2	chr7:62819441-62819684	ENSG00000229301
18	lnc-AC006455.1-2	chr7:62837707-62838611	NONHSAT120909
19	lnc-ZNF680-8	chr7:62814625-62814704	ENSG00000226587.1
20	lnc-ZNF680-7	chr7:62846111-62846167	ENSG00000230600
21	lnc-AC006455.1-2	chr7:62838106-62838187	NONHSAT120910
22	lnc-AC006455.1-4	chr7:62881602-62881901	ENSG00000227305.1
23	lnc-AC006455.1-4	chr7:62854166-62854245	ENSG00000227305.1

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
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
ENSG00000268181	TF binding region
SLC25A1P2	TF binding region
ENSG00000230132	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
ZNF734P	CpG island
ENSG00000230600	CpG island
ENSG00000227545	CpG island
ENSG00000234387	CpG island
ENSG00000227305	CpG island
ENSG00000229301	CpG island
ENSG00000227923	CpG island
ENSG00000268181	CpG island
SLC25A1P2	CpG island
ENSG00000230132	CpG island
VN1R33P	CpG island
ENSG00000224368	CpG island
ENSG00000232165	CpG island
VN1R31P	CpG island

Extended variants
information (count: 290 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:290 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs62474333	chr7:62806738-62806739	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs529212974	chr7:62808945-62808946	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs565349835	chr7:62809416-62809417	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
4	rs573765902	chr7:62809629-62809630	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
5	rs542960058	chr7:62809633-62809634	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
6	rs376531216	chr7:62809688-62809689	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs528497830	chr7:62809694-62809695	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs545384399	chr7:62809703-62809704	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs565275471	chr7:62809705-62809706	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs62474335	chr7:62809706-62809707	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs2241017	chr7:62809778-62809779	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs546909030	chr7:62810030-62810031	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
13	rs2241018	chr7:62810031-62810032	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
14	rs534154409	chr7:62810072-62810073	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
15	rs562932007	chr7:62827830-62827831	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs140162704	chr7:62827912-62827913	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs542139124	chr7:62827948-62827949	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs547809973	chr7:62827954-62827955	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs150317032	chr7:62827966-62827967	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs546737656	chr7:62827998-62827999	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs566524009	chr7:62828030-62828031	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs532214303	chr7:62828033-62828034	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs138005289	chr7:62828041-62828042	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs376101930	chr7:62828064-62828065	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs538167970	chr7:62828075-62828076	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs142527000	chr7:62828081-62828082	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs568138411	chr7:62828147-62828148	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs533886727	chr7:62828148-62828149	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs553859551	chr7:62828160-62828161	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs556009558	chr7:62828165-62828166	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs28406246	chr7:62828172-62828173	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs556746279	chr7:62828224-62828225	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
33	rs536530031	chr7:62828256-62828257	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
34	rs374385050	chr7:62828261-62828262	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
35	rs556844339	chr7:62828263-62828264	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
36	rs576547519	chr7:62828266-62828267	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
37	rs542558242	chr7:62828366-62828367	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
38	rs576689784	chr7:62828367-62828368	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
39	rs562337743	chr7:62828423-62828424	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
40	rs529713423	chr7:62828432-62828433	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
41	rs540192987	chr7:62828436-62828437	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
42	rs560179178	chr7:62828468-62828469	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
43	rs61478217	chr7:62828474-62828475	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
44	rs113557250	chr7:62828475-62828476	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
45	rs73350567	chr7:62828488-62828489	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs551962781	chr7:62828514-62828515	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
47	rs547440281	chr7:62828522-62828523	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
48	rs370800790	chr7:62829013-62829014	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs559015910	chr7:62829025-62829026	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs541741563	chr7:62829061-62829062	ZNF genes & repeats	n/a	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
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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