Variant report

Variant	nsv512607
Chromosome Location	chr20:26092456-26094997
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	chr20:26094517-26094580	MCF-7	breast:	n/a	n/a
2	CTCF	chr20:26093095-26093155	MCF-7	breast:	n/a	n/a
3	POLR2A	chr20:26093711-26094120	K562	blood:	n/a	n/a
4	POLR2A	chr20:26092594-26092798	K562	blood:	n/a	n/a
5	POLR2A	chr20:26094745-26095044	K562	blood:	n/a	n/a

Variant related genes	Relation type
NCOR1P1	TF binding region

Extended variants
information (count: 17 )
Associated
traits (count: 43 )

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs74712947	chr20:26094769-26094770	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs78871039	chr20:26094796-26094797	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs77352783	chr20:26094812-26094813	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs569934177	chr20:26094816-26094817	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs535345012	chr20:26094822-26094823	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs201506461	chr20:26094856-26094857	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs199801479	chr20:26094857-26094858	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs377501936	chr20:26094861-26094862	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs373817583	chr20:26094862-26094863	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs201413725	chr20:26094863-26094864	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs200639100	chr20:26094884-26094885	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs555354808	chr20:26094911-26094912	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs6138802	chr20:26094928-26094929	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs541004563	chr20:26094982-26094983	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs62211582	chr20:26094984-26094985	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs62211583	chr20:26094993-26094994	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs62211584	chr20:26094997-26094998	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:43)

Disease	PMID	Source
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	19627613	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Colorectal cancer	19359472	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Central neurocytomas	17123091	CNVD
Colorectal cancer	16272173	CNVD
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Colorectal cancer	21645411	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Esophageal cancer	21851588	CNVD
Chordoma	18071362	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16774939	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	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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