Variant report

Variant	nsv964895
Chromosome Location	chr5:75206383-75207857
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	chr5:75206729-75206856	MCF-7	breast:	n/a	n/a
2	CTCF	chr5:75206769-75206847	GM12892	blood:	n/a	n/a
3	CTCF	chr5:75207053-75207155	K562	blood:	n/a	n/a
4	CTCF	chr5:75207016-75207157	MCF-7	breast:	n/a	n/a
5	CTCF	chr5:75206758-75206851	MCF-7	breast:	n/a	n/a
6	CTCF	chr5:75207097-75207118	GM12892	blood:	n/a	n/a
7	CTCF	chr5:75206767-75206848	GM19238	blood:	n/a	n/a
8	CTCF	chr5:75206756-75206850	K562	blood:	n/a	n/a
9	CTCF	chr5:75207017-75207160	MCF-7	breast:	n/a	n/a
10	CTCF	chr5:75207029-75207161	MCF-7	breast:	n/a	n/a
11	CTCF	chr5:75207034-75207153	MCF-7	breast:	n/a	n/a
12	CTCF	chr5:75207007-75207159	MCF-7	breast:	n/a	n/a
13	POLR2A	chr5:75206774-75206795	MCF10A-Er-Src	breast:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-POC5-5	chr5:75206108-75206401	NONHSAT102225

Variant related genes	Relation type
ENSG00000249301	TF binding region
BIN2P2	TF binding region

Extended variants
information (count: 11 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs115427630	chr5:75206731-75206732	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs552359155	chr5:75206773-75206774	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs569335163	chr5:75206814-75206815	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs531692122	chr5:75206819-75206820	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs73763494	chr5:75206832-75206833	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs544224806	chr5:75207013-75207014	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs527689185	chr5:75207042-75207043	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs56791559	chr5:75207056-75207057	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs540498771	chr5:75207058-75207059	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs560418257	chr5:75207059-75207060	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs374583160	chr5:75207148-75207149	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	22032731	CNVD
Prostate cancer	21965145	CNVD
Spinal muscular atrophy	21762474	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Hepatocellular carcinoma	16750200	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	19602461	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Spinal muscular atrophy	15981080	CNVD
Spinal muscular atrophy	18839960	CNVD
Spinal muscular atrophy	19716110	CNVD
Glioblastoma multiforme	22286061	CNVD
craniofacial dysmorphism	21918468	CNVD
Multiple myeloma	16616336	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	17133270	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ovarian cancer	22355333	CNVD
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	21251322	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Schizophrenia	23813976	CNVD
Chronic lymphocytic leukemia	22228453	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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