Variant report

Variant	nsv966931
Chromosome Location	chr7:56472917-56477685
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr7:56475631-56475693	GM10248	blood:	n/a	n/a
2	CTCF	chr7:56472980-56473130	HFF-Myc	foreskin:	n/a	n/a
3	CTCF	chr7:56473106-56473141	GM13976	blood:	n/a	n/a
4	FOXA1	chr7:56473358-56473732	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
ENSG00000232944	TF binding region
RNU6-1052P	TF binding region

Extended variants
information (count: 18 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140449898	chr7:56473029-56473030	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs372407193	chr7:56473042-56473043	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs369825645	chr7:56473077-56473078	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs189223426	chr7:56473381-56473382	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs527544946	chr7:56473389-56473390	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs552091653	chr7:56473390-56473391	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs564279578	chr7:56473397-56473398	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs180699004	chr7:56473414-56473415	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs549824180	chr7:56473476-56473477	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs71549102	chr7:56473528-56473529	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs535431197	chr7:56473549-56473550	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs547376460	chr7:56473574-56473575	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs566379008	chr7:56473614-56473615	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs540096843	chr7:56473616-56473617	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs141288148	chr7:56473647-56473648	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs576564900	chr7:56473673-56473674	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs184167073	chr7:56473690-56473691	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs188514827	chr7:56473691-56473692	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Neuroblastoma	18923191	CNVD
Wilms tumour	21544195	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
Breast cancer	21364760	CNVD
Esophageal cancer	21851588	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
Cutaneous T-cell lymphoma	21881587	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Intracranial ependymoma	16609018	CNVD
Lung cancer	21911935	CNVD
Urothelial cell carcinoma	18451213	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	19455253	CNVD
Lung cancer	17925434	CNVD
Glioma	24330732	CNVD
Lung adenocarcinoma	23938291	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
Medullary thyroid carcinoma	18765511	CNVD
small cell lung cancer	20016488	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:0 , 50 per page) page:

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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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