Variant report

Variant	nsv888227
Chromosome Location	chr7:62601533-62729224
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:95)
CpG islands
(count:123)
Chromatin interactive
region (count:0)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:95 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr7:62718347-62718604	IMR90	lung:	n/a	chr7:62718492-62718509
2	CEBPB	chr7:62716889-62717216	IMR90	lung:	n/a	chr7:62717050-62717059 chr7:62717120-62717131
3	CEBPB	chr7:62603841-62603852	K562	blood:	n/a	n/a
4	CEBPB	chr7:62603856-62604105	K562	blood:	n/a	n/a
5	CEBPB	chr7:62718407-62718562	A549	lung:	n/a	chr7:62718492-62718509
6	CEBPB	chr7:62668778-62669023	MCF-7	breast:	n/a	n/a
7	CEBPB	chr7:62668869-62669111	MCF-7	breast:	n/a	n/a
8	CEBPB	chr7:62603875-62604040	A549	lung:	n/a	n/a
9	CTCF	chr7:62696872-62696878	GM10248	blood:	n/a	n/a
10	CTCF	chr7:62686180-62686330	HEK293	kidney:	n/a	chr7:62686232-62686248
11	CTCF	chr7:62689768-62689846	GM13977	blood:	n/a	n/a
12	CTCF	chr7:62606572-62606673	LNCaP	prostate:	n/a	n/a
13	CTCF	chr7:62707366-62707390	LNCaP	prostate:	n/a	n/a
14	CTCF	chr7:62617498-62617568	Lung_OC	lung:	n/a	n/a
15	CTCF	chr7:62696817-62696844	GM10248	blood:	n/a	n/a
16	CTCF	chr7:62696645-62696680	GM10248	blood:	n/a	n/a
17	CTCF	chr7:62716111-62716220	LNCaP	prostate:	n/a	n/a
18	CTCF	chr7:62699818-62699874	Kidney_OC	kidney:	n/a	n/a
19	CTCF	chr7:62682954-62683027	LNCaP	prostate:	n/a	n/a
20	CTCF	chr7:62645346-62645380	HepG2	liver:	n/a	n/a
21	CTCF	chr7:62696886-62696897	GM10248	blood:	n/a	n/a
22	CTCF	chr7:62695816-62695838	GM10248	blood:	n/a	n/a
23	CTCF	chr7:62679676-62679693	Kidney_OC	kidney:	n/a	n/a
24	CTCF	chr7:62692546-62692664	Lung_OC	lung:	n/a	n/a
25	CTCF	chr7:62686160-62686310	WERI-Rb-1	eye:	n/a	chr7:62686232-62686248
26	CTCF	chr7:62645355-62645405	Hela-S3	cervix:	n/a	n/a
27	CTCF	chr7:62604827-62604919	Kidney_OC	kidney:	n/a	n/a
28	CTCF	chr7:62696773-62696804	GM10248	blood:	n/a	n/a
29	CTCF	chr7:62688840-62688930	GM10266	blood:	n/a	n/a
30	CTCF	chr7:62688103-62688161	GM10266	blood:	n/a	n/a
31	CTCF	chr7:62637605-62637661	GM10248	blood:	n/a	n/a
32	CTCF	chr7:62671305-62671368	GM20000	blood:	n/a	n/a
33	CTCF	chr7:62685275-62685285	Lung_OC	lung:	n/a	n/a
34	CTCF	chr7:62714991-62715054	GM13977	blood:	n/a	n/a
35	CTCF	chr7:62686180-62686330	NB4	blood:	n/a	chr7:62686232-62686248
36	CTCF	chr7:62686230-62686254	K562	blood:	n/a	chr7:62686232-62686248
37	E2F4	chr7:62639390-62639590	MCF10A-Er-Src	breast:	n/a	n/a
38	E2F4	chr7:62602327-62602505	MCF10A-Er-Src	breast:	n/a	n/a
39	EP300	chr7:62679706-62679948	GM12878	blood:	n/a	chr7:62679825-62679839
40	FOS	chr7:62653665-62653694	MCF10A-Er-Src	breast:	n/a	n/a
41	FOXA1	chr7:62635040-62635290	HepG2	liver:	n/a	n/a
42	FOXA2	chr7:62614389-62614945	A549	lung:	n/a	n/a
43	FOXA2	chr7:62614536-62614930	A549	lung:	n/a	n/a
44	JUN	chr7:62706148-62706392	HepG2	liver:	n/a	chr7:62706284-62706297 chr7:62706288-62706297
45	JUN	chr7:62639274-62639357	H1-hESC	embryonic stem cell:	n/a	n/a
46	JUND	chr7:62637334-62637487	HepG2	liver:	n/a	n/a
47	JUND	chr7:62698733-62698963	HepG2	liver:	n/a	n/a
48	JUND	chr7:62668213-62668413	HepG2	liver:	n/a	n/a
49	JUND	chr7:62706154-62706445	HepG2	liver:	n/a	chr7:62706288-62706297
50	MAFF	chr7:62698173-62698252	HepG2	liver:	n/a	chr7:62698211-62698229

(count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:62693610-62693660	BJ	skin:	n/a
2	chr7:62693610-62693660	BJ	skin:	n/a
3	chr7:62693610-62693660	NH-A	brain:	n/a
4	chr7:62693631-62693681	HMEC	breast:	n/a
5	chr7:62693610-62693660	MCF10A-Er-Src	breast:	n/a
6	chr7:62693610-62693660	AoSMC	blood vessel:	n/a
7	chr7:62693631-62693681	GM12892	blood:	n/a
8	chr7:62693610-62693660	AG04450	lung:	fetal
9	chr7:62693610-62693660	IMR90	lung:	fetal
10	chr7:62693631-62693681	CMK	blood:	n/a
11	chr7:62693610-62693660	NT2-D1	testis:	n/a
12	chr7:62693610-62693660	SK-N-SH	brain:	n/a
13	chr7:62693631-62693681	NB4	blood:	n/a
14	chr7:62693610-62693660	Hepatocyte	liver:	n/a
15	chr7:62693631-62693681	Hela-S3	cervix:	n/a
16	chr7:62693631-62693681	GM19239	blood:	n/a
17	chr7:62693610-62693660	HRPEpiC	eye:	n/a
18	chr7:62693610-62693660	PFSK-1	brain:	n/a
19	chr7:62693631-62693681	HCT-116	colon:	n/a
20	chr7:62693610-62693660	H1-hESC	embryonic stem cell:	embryo
21	chr7:62693610-62693660	ECC-1	luminal epithelium:	n/a
22	chr7:62693631-62693681	AoSMC	blood vessel:	n/a
23	chr7:62693631-62693681	GM12891	blood:	n/a
24	chr7:62693631-62693681	AG09309	skin:	n/a
25	chr7:62693610-62693660	HNPCEpiC	eye:	n/a
26	chr7:62693610-62693660	HCT-116	colon:	n/a
27	chr7:62693610-62693660	NHDF-neo	bronchial:	n/a
28	chr7:62693631-62693681	HAEpiC	amniotic membrane:	n/a
29	chr7:62693610-62693660	AG10803	skin:	n/a
30	chr7:62693631-62693681	K562	blood:	n/a
31	chr7:62693610-62693660	HL-60	blood:	n/a
32	chr7:62693610-62693660	LNCaP	prostate:	n/a
33	chr7:62693610-62693660	HAEpiC	amniotic membrane:	n/a
34	chr7:62693631-62693681	HCM	heart:	n/a
35	chr7:62693610-62693660	AG09319	gingival:	n/a
36	chr7:62693631-62693681	HEK293	kidney:	embryo
37	chr7:62693610-62693660	ProgFib	skin:	n/a
38	chr7:62693610-62693660	MCF-7	breast:	n/a
39	chr7:62693610-62693660	HepG2	liver:	n/a
40	chr7:62693631-62693681	Hepatocyte	liver:	n/a
41	chr7:62693631-62693681	ovcar-3	ovarian:	n/a
42	chr7:62693610-62693660	Caco-2	colon:	n/a
43	chr7:62693610-62693660	SK-N-SH_RA	brain:	n/a
44	chr7:62693631-62693681	HNPCEpiC	eye:	n/a
45	chr7:62693631-62693681	MCF10A-Er-Src	breast:	n/a
46	chr7:62693631-62693681	ProgFib	skin:	n/a
47	chr7:62693610-62693660	PANC-1	pancreas:	n/a
48	chr7:62693631-62693681	NHDF-neo	bronchial:	n/a
49	chr7:62693610-62693660	AG04449	skin:	fetal
50	chr7:62693631-62693681	LNCaP	prostate:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC006455.1-8	chr7:62669597-62669710	NONHSAT120895
2	lnc-AC006455.1-8	chr7:62672054-62672200	NONHSAT120895
3	lnc-AC006455.1-7	chr7:62723443-62723834	NONHSAT120898

No data

Variant related genes	Relation type
ENSG00000199231	TF binding region
ENSG00000231523	TF binding region
ENSG00000244550	TF binding region
ENSG00000236638	TF binding region
PHKG1P1	TF binding region
SEPT7P4	TF binding region
ENSG00000237572	TF binding region
ENSG00000199231	CpG island
ENSG00000231523	CpG island
ENSG00000244550	CpG island
ENSG00000236638	CpG island
PHKG1P1	CpG island
SEPT7P4	CpG island
ENSG00000237572	CpG island

Extended variants
information (count: 510 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:510 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551466134	chr7:62601623-62601624	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs142442312	chr7:62601736-62601737	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs537669383	chr7:62601759-62601760	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs550977543	chr7:62601773-62601774	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs192003436	chr7:62601774-62601775	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs147961053	chr7:62601775-62601776	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs183628413	chr7:62601790-62601791	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs548491046	chr7:62615871-62615872	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs547554291	chr7:62615887-62615888	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs372915658	chr7:62615909-62615910	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs570972777	chr7:62615911-62615912	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs554210331	chr7:62615919-62615920	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs374883988	chr7:62615929-62615930	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs200051203	chr7:62615930-62615931	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs140898266	chr7:62615934-62615935	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs150086695	chr7:62615939-62615940	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs555655622	chr7:62615944-62615945	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs574335007	chr7:62615990-62615991	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs373170141	chr7:62616015-62616016	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs140195710	chr7:62616025-62616026	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs533811704	chr7:62616035-62616036	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs200932528	chr7:62616052-62616053	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs145645963	chr7:62616055-62616056	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs11769152	chr7:62616056-62616057	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs576908902	chr7:62616070-62616071	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs139400710	chr7:62616078-62616079	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs545587991	chr7:62616083-62616084	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs146805800	chr7:62616085-62616086	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs150179475	chr7:62616090-62616091	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs142727191	chr7:62616094-62616095	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs576322087	chr7:62616095-62616096	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs377560068	chr7:62616100-62616101	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs542132089	chr7:62616104-62616105	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs575892855	chr7:62616110-62616111	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs369241298	chr7:62616111-62616112	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs146989876	chr7:62616126-62616127	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs561994469	chr7:62616133-62616134	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs192665924	chr7:62616138-62616139	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs547813494	chr7:62616139-62616140	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs372529794	chr7:62616147-62616148	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs564335070	chr7:62616170-62616171	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs533420887	chr7:62616212-62616213	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs76531027	chr7:62616310-62616311	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs147384317	chr7:62616316-62616317	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs529477620	chr7:62616369-62616370	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs549240806	chr7:62616417-62616418	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs566406360	chr7:62616431-62616432	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs569847718	chr7:62616438-62616439	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs553686592	chr7:62616480-62616481	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs143979041	chr7:62616556-62616557	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
Lung cancer	18438408	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
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:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:62601600-62601800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
2	chr7:62615800-62618200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
3	chr7:62616200-62618400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
4	chr7:62617400-62618200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
5	chr7:62645600-62646200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr7:62651400-62652400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr7:62661200-62662800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr7:62661600-62663000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
9	chr7:62665600-62666200	Active TSS	Fetal Heart	heart
10	chr7:62677400-62678400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
11	chr7:62694200-62694600	ZNF genes & repeats	Gastric	stomach

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