Variant report

Variant	esv3584860
Chromosome Location	chr7:62689348-62733761
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:32)
CpG islands
(count:122)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:32 , 50 per page) page: 1

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	chr7:62718407-62718562	A549	lung:	n/a	chr7:62718492-62718509
3	CEBPB	chr7:62716889-62717216	IMR90	lung:	n/a	chr7:62717050-62717059 chr7:62717120-62717131
4	CTCF	chr7:62716111-62716220	LNCaP	prostate:	n/a	n/a
5	CTCF	chr7:62696773-62696804	GM10248	blood:	n/a	n/a
6	CTCF	chr7:62695816-62695838	GM10248	blood:	n/a	n/a
7	CTCF	chr7:62696645-62696680	GM10248	blood:	n/a	n/a
8	CTCF	chr7:62730176-62730188	LNCaP	prostate:	n/a	n/a
9	CTCF	chr7:62696817-62696844	GM10248	blood:	n/a	n/a
10	CTCF	chr7:62696872-62696878	GM10248	blood:	n/a	n/a
11	CTCF	chr7:62707366-62707390	LNCaP	prostate:	n/a	n/a
12	CTCF	chr7:62692546-62692664	Lung_OC	lung:	n/a	n/a
13	CTCF	chr7:62699818-62699874	Kidney_OC	kidney:	n/a	n/a
14	CTCF	chr7:62689768-62689846	GM13977	blood:	n/a	n/a
15	CTCF	chr7:62696886-62696897	GM10248	blood:	n/a	n/a
16	CTCF	chr7:62714991-62715054	GM13977	blood:	n/a	n/a
17	JUN	chr7:62706148-62706392	HepG2	liver:	n/a	chr7:62706284-62706297 chr7:62706288-62706297
18	JUND	chr7:62698733-62698963	HepG2	liver:	n/a	n/a
19	JUND	chr7:62706154-62706445	HepG2	liver:	n/a	chr7:62706288-62706297
20	MAFF	chr7:62698173-62698252	HepG2	liver:	n/a	chr7:62698211-62698229
21	MAFK	chr7:62698059-62698393	HepG2	liver:	n/a	n/a
22	MAFK	chr7:62698166-62698384	HepG2	liver:	n/a	n/a
23	MAFK	chr7:62698050-62698397	IMR90	lung:	n/a	n/a
24	MAFK	chr7:62698201-62698253	K562	blood:	n/a	n/a
25	POLR2A	chr7:62723511-62723646	A549	lung:	n/a	n/a
26	POLR2A	chr7:62689444-62689527	MCF10A-Er-Src	breast:	n/a	n/a
27	POLR2A	chr7:62693345-62693352	Gliobla	brain:	n/a	n/a
28	POLR2A	chr7:62730241-62730367	ProgFib	skin:	n/a	n/a
29	POLR2A	chr7:62693174-62693300	Gliobla	brain:	n/a	n/a
30	POLR2A	chr7:62707637-62708099	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr7:62723454-62723502	A549	lung:	n/a	n/a
32	POLR2A	chr7:62710872-62710903	Gliobla	brain:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:62693610-62693660	HIPEpiC	eye:	n/a
2	chr7:62693631-62693681	NT2-D1	testis:	n/a
3	chr7:62693610-62693660	NHDF-neo	bronchial:	n/a
4	chr7:62693631-62693681	NB4	blood:	n/a
5	chr7:62693631-62693681	HRCEpiC	kidney:	n/a
6	chr7:62693631-62693681	AG09319	gingival:	n/a
7	chr7:62693631-62693681	H1-hESC	embryonic stem cell:	embryo
8	chr7:62693610-62693660	AG09319	gingival:	n/a
9	chr7:62693631-62693681	LNCaP	prostate:	n/a
10	chr7:62693610-62693660	SKMC	muscle:	n/a
11	chr7:62693610-62693660	H1-hESC	embryonic stem cell:	embryo
12	chr7:62693610-62693660	NHBE	bronchial:	n/a
13	chr7:62693631-62693681	K562	blood:	n/a
14	chr7:62693610-62693660	HRE	kidney:	n/a
15	chr7:62693631-62693681	HRPEpiC	eye:	n/a
16	chr7:62693631-62693681	SK-N-SH_RA	brain:	n/a
17	chr7:62693610-62693660	HUVEC	blood vessel:	n/a
18	chr7:62693631-62693681	PANC-1	pancreas:	n/a
19	chr7:62693610-62693660	MCF-7	breast:	n/a
20	chr7:62693610-62693660	HRCEpiC	kidney:	n/a
21	chr7:62693610-62693660	SK-N-MC	brain:	n/a
22	chr7:62693631-62693681	HepG2	liver:	n/a
23	chr7:62693610-62693660	HAEpiC	amniotic membrane:	n/a
24	chr7:62693631-62693681	NHDF-neo	bronchial:	n/a
25	chr7:62693610-62693660	K562	blood:	n/a
26	chr7:62693631-62693681	A549	lung:	n/a
27	chr7:62693631-62693681	AoSMC	blood vessel:	n/a
28	chr7:62693631-62693681	Hela-S3	cervix:	n/a
29	chr7:62693610-62693660	HCPEpiC	choroid plexus:	n/a
30	chr7:62693610-62693660	AG10803	skin:	n/a
31	chr7:62693631-62693681	GM19239	blood:	n/a
32	chr7:62693610-62693660	RPTEC	kidney:	n/a
33	chr7:62693610-62693660	HPAEpiC	pulmonary alveolar:	n/a
34	chr7:62693610-62693660	HCM	heart:	n/a
35	chr7:62693610-62693660	Hepatocyte	liver:	n/a
36	chr7:62693610-62693660	SK-N-SH	brain:	n/a
37	chr7:62693610-62693660	PFSK-1	brain:	n/a
38	chr7:62693631-62693681	U87	brain:	n/a
39	chr7:62693610-62693660	HCF	heart:	n/a
40	chr7:62693631-62693681	PFSK-1	brain:	n/a
41	chr7:62693631-62693681	GM12891	blood:	n/a
42	chr7:62693631-62693681	HCF	heart:	n/a
43	chr7:62693610-62693660	BJ	skin:	n/a
44	chr7:62693631-62693681	HIPEpiC	eye:	n/a
45	chr7:62693631-62693681	Jurkat	blood:	n/a
46	chr7:62693631-62693681	T-47D	breast:	n/a
47	chr7:62693631-62693681	HNPCEpiC	eye:	n/a
48	chr7:62693631-62693681	HEK293	kidney:	embryo
49	chr7:62693610-62693660	PANC-1	pancreas:	n/a
50	chr7:62693610-62693660	HepG2	liver:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC006455.1-7	chr7:62723443-62723834	NONHSAT120898

No data

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

Extended variants
information (count: 96 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:96 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551478654	chr7:62694233-62694234	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs571334437	chr7:62694234-62694235	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs76238982	chr7:62694258-62694259	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs550594444	chr7:62694269-62694270	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs567173380	chr7:62694307-62694308	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs536148353	chr7:62694309-62694310	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs148058482	chr7:62694318-62694319	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs185568199	chr7:62694389-62694390	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs538725061	chr7:62694395-62694396	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs559043575	chr7:62694407-62694408	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs575739632	chr7:62694409-62694410	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs544837796	chr7:62694412-62694413	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs561327751	chr7:62694415-62694416	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs190134072	chr7:62694427-62694428	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs540945113	chr7:62694467-62694468	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs559365214	chr7:62694468-62694469	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs11980174	chr7:62694495-62694496	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs181649508	chr7:62694507-62694508	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs565036014	chr7:62694527-62694528	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs530521698	chr7:62694528-62694529	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs550708554	chr7:62694551-62694552	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs149173478	chr7:62694558-62694559	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs112964772	chr7:62694584-62694585	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs528862878	chr7:62694597-62694598	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs182988550	chr7:62695831-62695832	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs376001787	chr7:62696886-62696887	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs2311995	chr7:62696896-62696897	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs555661290	chr7:62698070-62698071	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs572476086	chr7:62698104-62698105	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs541113808	chr7:62698130-62698131	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs71561028	chr7:62698210-62698211	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs117904616	chr7:62698237-62698238	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs187286396	chr7:62698357-62698358	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs191086322	chr7:62698395-62698396	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs550428907	chr7:62698748-62698749	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs557895193	chr7:62698784-62698785	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs192663254	chr7:62698788-62698789	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs543566142	chr7:62698798-62698799	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs182674653	chr7:62698841-62698842	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs529446198	chr7:62698849-62698850	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs570921944	chr7:62698850-62698851	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs187881000	chr7:62698861-62698862	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs192654617	chr7:62698876-62698877	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs184939972	chr7:62698890-62698891	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs528813118	chr7:62698895-62698896	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs559536619	chr7:62698926-62698927	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs563943972	chr7:62698928-62698929	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs370951798	chr7:62698931-62698932	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs1990459	chr7:62698954-62698955	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs550664890	chr7:62706180-62706181	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:76)

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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:62694200-62694600	ZNF genes & repeats	Gastric	stomach

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