Variant report

Variant	nsv8104
Chromosome Location	chr7:62761874-62805869
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:50)
CpG islands
(count:183)
Chromatin interactive
region (count:0)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr7:62773741-62773792	LNCaP	prostate:	n/a	n/a
2	CTCF	chr7:62801899-62801954	GM13976	blood:	n/a	n/a
3	CTCF	chr7:62794591-62794619	Lung_OC	lung:	n/a	n/a
4	CTCF	chr7:62803249-62803281	LNCaP	prostate:	n/a	n/a
5	CTCF	chr7:62803385-62803413	GM13976	blood:	n/a	n/a
6	CTCF	chr7:62776198-62776226	GM13976	blood:	n/a	n/a
7	CTCF	chr7:62785168-62785244	LNCaP	prostate:	n/a	n/a
8	CTCF	chr7:62775149-62775222	GM13976	blood:	n/a	n/a
9	CTCF	chr7:62795021-62795075	Medullo	brain:	n/a	n/a
10	CTCF	chr7:62791054-62791114	Medullo	brain:	n/a	n/a
11	CTCF	chr7:62769829-62769855	GM20000	blood:	n/a	n/a
12	CTCF	chr7:62779054-62779071	LNCaP	prostate:	n/a	n/a
13	MYC	chr7:62784018-62784028	MCF-7	breast:	n/a	n/a
14	MYC	chr7:62800788-62800789	MCF-7	breast:	n/a	n/a
15	MYC	chr7:62800720-62800782	MCF-7	breast:	n/a	n/a
16	MYC	chr7:62784002-62784017	MCF-7	breast:	n/a	n/a
17	MYC	chr7:62774766-62774799	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr7:62794138-62794398	MCF-7	breast:	n/a	n/a
19	POLR2A	chr7:62800737-62800785	MCF-7	breast:	n/a	n/a
20	POLR2A	chr7:62775718-62775773	MCF-7	breast:	n/a	n/a
21	POLR2A	chr7:62801758-62801769	A549	lung:	n/a	n/a
22	POLR2A	chr7:62771079-62771171	Gliobla	brain:	n/a	n/a
23	POLR2A	chr7:62795776-62795785	MCF-7	breast:	n/a	n/a
24	POLR2A	chr7:62798529-62798710	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr7:62777177-62777184	A549	lung:	n/a	n/a
26	POLR2A	chr7:62775780-62775790	MCF-7	breast:	n/a	n/a
27	POLR2A	chr7:62788779-62788919	A549	lung:	n/a	n/a
28	POLR2A	chr7:62788696-62788920	MCF-7	breast:	n/a	n/a
29	POLR2A	chr7:62801766-62801796	MCF-7	breast:	n/a	n/a
30	POLR2A	chr7:62803560-62803703	Gliobla	brain:	n/a	n/a
31	POLR2A	chr7:62762299-62762325	A549	lung:	n/a	n/a
32	POLR2A	chr7:62775246-62775267	Gliobla	brain:	n/a	n/a
33	POLR2A	chr7:62781657-62781798	GM12878	blood:	n/a	n/a
34	POLR2A	chr7:62795715-62795740	A549	lung:	n/a	n/a
35	POLR2A	chr7:62775573-62775700	MCF-7	breast:	n/a	n/a
36	POLR2A	chr7:62803250-62803325	MCF-7	breast:	n/a	n/a
37	POLR2A	chr7:62778277-62778378	Gliobla	brain:	n/a	n/a
38	POLR2A	chr7:62764344-62764494	H1-hESC	embryonic stem cell:	n/a	n/a
39	POLR2A	chr7:62800667-62800833	MCF-7	breast:	n/a	n/a
40	POLR2A	chr7:62788750-62788763	A549	lung:	n/a	n/a
41	POLR2A	chr7:62805033-62805135	GM12878	blood:	n/a	n/a
42	POLR2A	chr7:62801807-62801908	MCF-7	breast:	n/a	n/a
43	POLR2A	chr7:62791847-62791864	A549	lung:	n/a	n/a
44	POLR2A	chr7:62788685-62788914	MCF-7	breast:	n/a	n/a
45	POLR2A	chr7:62805005-62805018	GM12878	blood:	n/a	n/a
46	POLR2A	chr7:62803126-62803330	Gliobla	brain:	n/a	n/a
47	POLR2A	chr7:62784037-62784181	GM12878	blood:	n/a	n/a
48	POLR2A	chr7:62801772-62801907	A549	lung:	n/a	n/a
49	RXRA	chr7:62798523-62798677	HepG2	liver:	n/a	n/a
50	ZBTB33	chr7:62798390-62798695	HepG2	liver:	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	NT2-D1	testis:	n/a
2	chr7:62765329-62765379	Jurkat	blood:	n/a
3	chr7:62765320-62765370	HUVEC	blood vessel:	n/a
4	chr7:62765320-62765370	HMEC	breast:	n/a
5	chr7:62765329-62765379	NB4	blood:	n/a
6	chr7:62765329-62765379	GM19239	blood:	n/a
7	chr7:62765320-62765370	ovcar-3	ovarian:	n/a
8	chr7:62765329-62765379	HepG2	liver:	n/a
9	chr7:62762850-62762900	PANC-1	pancreas:	n/a
10	chr7:62765329-62765379	GM06990	blood:	n/a
11	chr7:62762850-62762900	CMK	blood:	n/a
12	chr7:62765320-62765370	HRCEpiC	kidney:	n/a
13	chr7:62762850-62762900	NHDF-neo	bronchial:	n/a
14	chr7:62765320-62765370	MCF-7	breast:	n/a
15	chr7:62762850-62762900	HEK293	kidney:	embryo
16	chr7:62765320-62765370	AG04450	lung:	fetal
17	chr7:62762850-62762900	NH-A	brain:	n/a
18	chr7:62765320-62765370	U87	brain:	n/a
19	chr7:62765320-62765370	IMR90	lung:	fetal
20	chr7:62765329-62765379	SK-N-SH_RA	brain:	n/a
21	chr7:62765320-62765370	BJ	skin:	n/a
22	chr7:62762850-62762900	PrEC	prostate:	n/a
23	chr7:62765320-62765370	SK-N-MC	brain:	n/a
24	chr7:62762850-62762900	HRE	kidney:	n/a
25	chr7:62762850-62762900	Jurkat	blood:	n/a
26	chr7:62765329-62765379	ProgFib	skin:	n/a
27	chr7:62765320-62765370	ECC-1	luminal epithelium:	n/a
28	chr7:62765320-62765370	K562	blood:	n/a
29	chr7:62765329-62765379	HUVEC	blood vessel:	n/a
30	chr7:62765329-62765379	HNPCEpiC	eye:	n/a
31	chr7:62765320-62765370	SK-N-SH	brain:	n/a
32	chr7:62762850-62762900	HepG2	liver:	n/a
33	chr7:62765329-62765379	BE2_C	brain:	n/a
34	chr7:62765320-62765370	GM19239	blood:	n/a
35	chr7:62762850-62762900	GM12878	blood:	n/a
36	chr7:62765329-62765379	A549	lung:	n/a
37	chr7:62765320-62765370	HNPCEpiC	eye:	n/a
38	chr7:62765320-62765370	NB4	blood:	n/a
39	chr7:62765329-62765379	HEEpiC	esophagus:	n/a
40	chr7:62765329-62765379	AG09309	skin:	n/a
41	chr7:62765320-62765370	HAEpiC	amniotic membrane:	n/a
42	chr7:62765320-62765370	Jurkat	blood:	n/a
43	chr7:62765329-62765379	HEK293	kidney:	embryo
44	chr7:62762850-62762900	HNPCEpiC	eye:	n/a
45	chr7:62765329-62765379	SKMC	muscle:	n/a
46	chr7:62762850-62762900	HL-60	blood:	n/a
47	chr7:62765329-62765379	IMR90	lung:	fetal
48	chr7:62765320-62765370	Caco-2	colon:	n/a
49	chr7:62765329-62765379	NHBE	bronchial:	n/a
50	chr7:62765329-62765379	HCF	heart:	n/a

No data

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF680-42	chr7:62764328-62764434	NONHSAT120899
2	lnc-ZNF680-42	chr7:62764328-62764366	NONHSAT120900
3	lnc-ZNF680-8	chr7:62787052-62787278	ENSG00000226587.1
4	lnc-AC006455.1-6	chr7:62803089-62803578	NONHSAT120902

No data

Variant related genes	Relation type
ENSG00000227298	TF binding region
ENSG00000230000	TF binding region
ENSG00000232165	TF binding region
ZNF733P	TF binding region
ENSG00000227298	CpG island
ENSG00000230000	CpG island
ENSG00000232165	CpG island
ZNF733P	CpG island

Extended variants
information (count: 5 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs62474330	chr7:62798688-62798689	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs1014138	chr7:62801924-62801925	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
3	rs799416	chr7:62803168-62803169	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
4	rs1860842	chr7:62803489-62803490	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs1860843	chr7:62803527-62803528	Inactive region	lncRNA	n/a	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
Schizophrenia	20967226	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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