Variant report

Variant	esv3441515
Chromosome Location	chr7:62857767-62859615
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:244)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr7:62857762-62857839	GM10248	blood:	n/a	n/a
2	MYC	chr7:62859567-62859634	H1-hESC	embryonic stem cell:	n/a	n/a
3	MYC	chr7:62859491-62859495	MCF-7	breast:	n/a	n/a
4	MYC	chr7:62858742-62858802	H1-hESC	embryonic stem cell:	n/a	n/a
5	MYC	chr7:62858838-62858892	H1-hESC	embryonic stem cell:	n/a	n/a
6	MYC	chr7:62859496-62859579	MCF-7	breast:	n/a	n/a
7	MYC	chr7:62858819-62858826	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr7:62859480-62859491	MCF-7	breast:	n/a	n/a
9	POLR2A	chr7:62859483-62859784	MCF-7	breast:	n/a	n/a
10	POLR2A	chr7:62858818-62858841	MCF-7	breast:	n/a	n/a
11	POLR2A	chr7:62858843-62858881	MCF-7	breast:	n/a	n/a

(count:244 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:62859493-62859543	MCF10A-Er-Src	breast:	n/a
2	chr7:62859535-62859585	PFSK-1	brain:	n/a
3	chr7:62859557-62859607	ECC-1	luminal epithelium:	n/a
4	chr7:62859493-62859543	SK-N-SH_RA	brain:	n/a
5	chr7:62859227-62859277	MCF-7	breast:	n/a
6	chr7:62859557-62859607	HCPEpiC	choroid plexus:	n/a
7	chr7:62859227-62859277	HAEpiC	amniotic membrane:	n/a
8	chr7:62859493-62859543	HRPEpiC	eye:	n/a
9	chr7:62859557-62859607	HEK293	kidney:	embryo
10	chr7:62859227-62859277	HepG2	liver:	n/a
11	chr7:62859493-62859543	U87	brain:	n/a
12	chr7:62859227-62859277	GM06990	blood:	n/a
13	chr7:62859493-62859543	NHDF-neo	bronchial:	n/a
14	chr7:62859227-62859277	ovcar-3	ovarian:	n/a
15	chr7:62859535-62859585	ECC-1	luminal epithelium:	n/a
16	chr7:62859535-62859585	HRPEpiC	eye:	n/a
17	chr7:62859535-62859585	AG04449	skin:	fetal
18	chr7:62859227-62859277	K562	blood:	n/a
19	chr7:62859557-62859607	HPAEpiC	pulmonary alveolar:	n/a
20	chr7:62859227-62859277	GM19239	blood:	n/a
21	chr7:62859557-62859607	PrEC	prostate:	n/a
22	chr7:62859535-62859585	SK-N-SH	brain:	n/a
23	chr7:62859227-62859277	HEEpiC	esophagus:	n/a
24	chr7:62859557-62859607	SK-N-SH_RA	brain:	n/a
25	chr7:62859227-62859277	PrEC	prostate:	n/a
26	chr7:62859227-62859277	Hela-S3	cervix:	n/a
27	chr7:62859493-62859543	K562	blood:	n/a
28	chr7:62859227-62859277	SK-N-SH_RA	brain:	n/a
29	chr7:62859493-62859543	HL-60	blood:	n/a
30	chr7:62859557-62859607	SK-N-MC	brain:	n/a
31	chr7:62859227-62859277	HPAEpiC	pulmonary alveolar:	n/a
32	chr7:62859557-62859607	AG04450	lung:	fetal
33	chr7:62859557-62859607	HNPCEpiC	eye:	n/a
34	chr7:62859535-62859585	HRCEpiC	kidney:	n/a
35	chr7:62859227-62859277	Hepatocyte	liver:	n/a
36	chr7:62859493-62859543	HCM	heart:	n/a
37	chr7:62859493-62859543	AG10803	skin:	n/a
38	chr7:62859227-62859277	SKMC	muscle:	n/a
39	chr7:62859535-62859585	HL-60	blood:	n/a
40	chr7:62859557-62859607	A549	lung:	n/a
41	chr7:62859493-62859543	Jurkat	blood:	n/a
42	chr7:62859535-62859585	AG10803	skin:	n/a
43	chr7:62859227-62859277	PANC-1	pancreas:	n/a
44	chr7:62859557-62859607	GM12892	blood:	n/a
45	chr7:62859227-62859277	CMK	blood:	n/a
46	chr7:62859535-62859585	Hela-S3	cervix:	n/a
47	chr7:62859557-62859607	ovcar-3	ovarian:	n/a
48	chr7:62859227-62859277	HNPCEpiC	eye:	n/a
49	chr7:62859493-62859543	NHBE	bronchial:	n/a
50	chr7:62859557-62859607	AG09309	skin:	n/a

No data

Variant related genes	Relation type
ENSG00000223889	TF binding region
ENSG00000232817	TF binding region
ENSG00000268181	TF binding region
SLC25A1P2	TF binding region
ENSG00000223889	CpG island
ENSG00000232817	CpG island
ENSG00000268181	CpG island
SLC25A1P2	CpG island

Extended variants
information (count: 1 )
Associated
traits (count: 74 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2908300	chr7:62859530-62859531	Inactive region	TF binding region CpG island	1 gene(s)	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
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	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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