Variant report

Variant	esv3432699
Chromosome Location	chr7:57669610-57689108
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:45)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:45 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr7:57671898-57672015	LNCaP	prostate:	n/a	n/a
2	CTCF	chr7:57680531-57680580	LNCaP	prostate:	n/a	n/a
3	CTCF	chr7:57683975-57684045	GM20000	blood:	n/a	n/a
4	CTCF	chr7:57684560-57684627	LNCaP	prostate:	n/a	n/a
5	FOSL2	chr7:57679258-57679554	HepG2	liver:	n/a	n/a
6	FOSL2	chr7:57685016-57685273	HepG2	liver:	n/a	n/a
7	FOSL2	chr7:57683879-57684233	HepG2	liver:	n/a	n/a
8	FOSL2	chr7:57677704-57677957	HepG2	liver:	n/a	n/a
9	FOSL2	chr7:57684614-57684939	HepG2	liver:	n/a	n/a
10	FOSL2	chr7:57686735-57687524	HepG2	liver:	n/a	n/a
11	FOSL2	chr7:57673789-57674106	HepG2	liver:	n/a	n/a
12	JUND	chr7:57682825-57683024	HepG2	liver:	n/a	n/a
13	JUND	chr7:57679275-57679431	HepG2	liver:	n/a	n/a
14	JUND	chr7:57687193-57687446	HepG2	liver:	n/a	n/a
15	MYC	chr7:57680879-57681006	HUVEC	blood vessel:	n/a	n/a
16	PAX5	chr7:57686739-57687032	GM12878	blood:	n/a	n/a
17	PAX5	chr7:57687009-57687349	GM12878	blood:	n/a	n/a
18	PAX5	chr7:57685239-57685538	GM12878	blood:	n/a	n/a
19	PAX5	chr7:57679703-57680201	GM12878	blood:	n/a	n/a
20	PAX5	chr7:57676417-57676887	GM12878	blood:	n/a	n/a
21	PBX3	chr7:57682486-57682609	GM12878	blood:	n/a	n/a
22	POU2F2	chr7:57673821-57674110	GM12878	blood:	n/a	n/a
23	POU2F2	chr7:57673450-57673793	GM12878	blood:	n/a	n/a
24	POU2F2	chr7:57679266-57679670	GM12878	blood:	n/a	n/a
25	POU2F2	chr7:57681025-57681303	GM12878	blood:	n/a	n/a
26	POU2F2	chr7:57686798-57687259	GM12878	blood:	n/a	n/a
27	RXRA	chr7:57686796-57687611	HepG2	liver:	n/a	n/a
28	RXRA	chr7:57676860-57677393	HepG2	liver:	n/a	n/a
29	SIN3AK20	chr7:57684615-57684716	HepG2	liver:	n/a	n/a
30	TCF3	chr7:57675000-57675236	GM12878	blood:	n/a	n/a
31	TCF3	chr7:57685622-57685907	GM12878	blood:	n/a	n/a
32	USF1	chr7:57686864-57686989	HepG2	liver:	n/a	n/a
33	USF1	chr7:57685407-57685575	HepG2	liver:	n/a	n/a
34	USF1	chr7:57676822-57676978	HepG2	liver:	n/a	n/a
35	ZBTB33	chr7:57677720-57677960	GM12878	blood:	n/a	n/a
36	ZBTB33	chr7:57676378-57676880	GM12878	blood:	n/a	n/a
37	ZBTB33	chr7:57674977-57675268	GM12878	blood:	n/a	n/a
38	ZBTB33	chr7:57684651-57685008	HepG2	liver:	n/a	n/a
39	ZBTB33	chr7:57679289-57679563	GM12878	blood:	n/a	n/a
40	ZBTB33	chr7:57673861-57674113	GM12878	blood:	n/a	n/a
41	ZBTB33	chr7:57676541-57676849	HepG2	liver:	n/a	n/a
42	ZBTB33	chr7:57679270-57679588	GM12878	blood:	n/a	n/a
43	ZBTB33	chr7:57676438-57676548	HepG2	liver:	n/a	n/a
44	ZBTB33	chr7:57686654-57687233	GM12878	blood:	n/a	n/a
45	ZBTB33	chr7:57685023-57685177	HepG2	liver:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:57688265-57688315	NHDF-neo	bronchial:	n/a
2	chr7:57688265-57688315	CMK	blood:	n/a
3	chr7:57688265-57688315	AG04450	lung:	fetal
4	chr7:57688265-57688315	A549	lung:	n/a
5	chr7:57688265-57688315	HRCEpiC	kidney:	n/a
6	chr7:57688265-57688315	AG04449	skin:	fetal
7	chr7:57688265-57688315	SKMC	muscle:	n/a
8	chr7:57688265-57688315	HCM	heart:	n/a
9	chr7:57688265-57688315	ProgFib	skin:	n/a
10	chr7:57688265-57688315	PrEC	prostate:	n/a
11	chr7:57688265-57688315	AoSMC	blood vessel:	n/a
12	chr7:57688265-57688315	RPTEC	kidney:	n/a
13	chr7:57688265-57688315	AG09309	skin:	n/a
14	chr7:57688265-57688315	SAEC	small airway:	n/a
15	chr7:57688265-57688315	HAEpiC	amniotic membrane:	n/a
16	chr7:57688265-57688315	HCT-116	colon:	n/a
17	chr7:57688265-57688315	ECC-1	luminal epithelium:	n/a
18	chr7:57688265-57688315	NHBE	bronchial:	n/a
19	chr7:57688265-57688315	SK-N-SH_RA	brain:	n/a
20	chr7:57688265-57688315	NH-A	brain:	n/a
21	chr7:57688265-57688315	Hepatocyte	liver:	n/a
22	chr7:57688265-57688315	HRE	kidney:	n/a
23	chr7:57688265-57688315	HepG2	liver:	n/a
24	chr7:57688265-57688315	SK-N-MC	brain:	n/a
25	chr7:57688265-57688315	HEEpiC	esophagus:	n/a
26	chr7:57688265-57688315	HEK293	kidney:	embryo
27	chr7:57688265-57688315	IMR90	lung:	fetal
28	chr7:57688265-57688315	GM12892	blood:	n/a
29	chr7:57688265-57688315	HCF	heart:	n/a
30	chr7:57688265-57688315	GM12891	blood:	n/a
31	chr7:57688265-57688315	GM19239	blood:	n/a
32	chr7:57688265-57688315	HNPCEpiC	eye:	n/a
33	chr7:57688265-57688315	PFSK-1	brain:	n/a
34	chr7:57688265-57688315	T-47D	breast:	n/a
35	chr7:57688265-57688315	AG09319	gingival:	n/a
36	chr7:57688265-57688315	LNCaP	prostate:	n/a
37	chr7:57688265-57688315	Jurkat	blood:	n/a
38	chr7:57688265-57688315	AG10803	skin:	n/a
39	chr7:57688265-57688315	BE2_C	brain:	n/a
40	chr7:57688265-57688315	HCPEpiC	choroid plexus:	n/a
41	chr7:57688265-57688315	HL-60	blood:	n/a
42	chr7:57688265-57688315	HRPEpiC	eye:	n/a
43	chr7:57688265-57688315	GM12878	blood:	n/a
44	chr7:57688265-57688315	HIPEpiC	eye:	n/a
45	chr7:57688265-57688315	NT2-D1	testis:	n/a
46	chr7:57688265-57688315	SK-N-SH	brain:	n/a
47	chr7:57688265-57688315	HMEC	breast:	n/a
48	chr7:57688265-57688315	PANC-1	pancreas:	n/a
49	chr7:57688265-57688315	HUVEC	blood vessel:	n/a
50	chr7:57688265-57688315	MCF-7	breast:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF479-8	chr7:57688668-57688812	NONHSAT120848
2	lnc-ZNF479-8	chr7:57688185-57688268	NONHSAT120847

No data

Variant related genes	Relation type
ENSG00000270749	TF binding region
ENSG00000270749	CpG island

Extended variants
information (count: 35 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:35 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4079171	chr7:57684829-57684830	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs62450194	chr7:57684842-57684843	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs113334011	chr7:57684987-57684988	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs199565488	chr7:57685175-57685176	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs141881598	chr7:57685796-57685797	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs550895918	chr7:57685804-57685805	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs201370641	chr7:57685816-57685817	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs535998306	chr7:57685817-57685818	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs548148108	chr7:57685854-57685855	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs376399882	chr7:57686750-57686751	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs534071408	chr7:57686765-57686766	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs199666989	chr7:57686927-57686928	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs200660681	chr7:57686930-57686931	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs190037027	chr7:57686989-57686990	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs183111495	chr7:57687009-57687010	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs558852757	chr7:57687031-57687032	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs186852512	chr7:57687033-57687034	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs191642520	chr7:57687056-57687057	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs577215774	chr7:57687061-57687062	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs183894600	chr7:57687069-57687070	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs199833493	chr7:57687088-57687089	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs200690497	chr7:57687089-57687090	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs538012472	chr7:57687092-57687093	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs556098855	chr7:57687106-57687107	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs575676482	chr7:57687141-57687142	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs201560097	chr7:57687183-57687184	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs542779727	chr7:57687284-57687285	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs200036335	chr7:57687354-57687355	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs1890863	chr7:57688308-57688309	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
30	rs113440720	chr7:57688688-57688689	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs368366277	chr7:57688697-57688698	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
32	rs371339338	chr7:57688703-57688704	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
33	rs373983715	chr7:57688726-57688727	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
34	rs544479345	chr7:57688793-57688794	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
35	rs376310191	chr7:57688794-57688795	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Medulloblastoma	21979893	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	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
Endometrioid adenocarcinoma	16974079	CNVD
Autism	22495311	CNVD
Biliary cancer	19435499	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Glioma	17634744	CNVD
Oral squamous cell carcinoma	19276369	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Lung cancer	20031968	CNVD
Glioblastoma	17090523	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Glioma	17123091	CNVD
Hodgkin''s lymphoma	18641027	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	18451855	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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