Variant report

Variant	esv3494494
Chromosome Location	chr10:52466996-52472094
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	GABPA	chr10:52469492-52469728	Hela-S3	cervix:	n/a	n/a
2	GATA2	chr10:52469922-52470348	K562	blood:	n/a	chr10:52470207-52470217 chr10:52470208-52470217 chr10:52470208-52470215 chr10:52470205-52470215
3	GATA3	chr10:52469958-52470255	T-47D	breast:	n/a	chr10:52470207-52470217 chr10:52470208-52470217 chr10:52470208-52470215 chr10:52470205-52470215
4	PBX3	chr10:52470373-52470501	GM12878	blood:	n/a	n/a
5	POLR2A	chr10:52469430-52470081	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr10:52469373-52469988	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr10:52471994-52472048	MCF-7	breast:	n/a	n/a
8	POLR2A	chr10:52469476-52469992	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr10:52469177-52470299	H1-hESC	embryonic stem cell:	n/a	n/a
10	TAF1	chr10:52469441-52470022	H1-hESC	embryonic stem cell:	n/a	n/a
11	TAF1	chr10:52469065-52470150	H1-hESC	embryonic stem cell:	n/a	n/a
12	USF1	chr10:52468502-52468665	HepG2	liver:	n/a	chr10:52468599-52468610
13	USF1	chr10:52468546-52468662	HepG2	liver:	n/a	chr10:52468599-52468610

Variant related genes	Relation type
CTSLP4	TF binding region

Extended variants
information (count: 29 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs377112053	chr10:52469922-52469923	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs202146199	chr10:52469952-52469953	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs530395231	chr10:52469975-52469976	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs550650153	chr10:52469992-52469993	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs376718562	chr10:52470029-52470030	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs191521357	chr10:52470043-52470044	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs2495593	chr10:52470055-52470056	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs536487428	chr10:52470061-52470062	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs182795100	chr10:52470062-52470063	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs566799580	chr10:52470067-52470068	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs538921267	chr10:52470108-52470109	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs61857102	chr10:52470133-52470134	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs566541630	chr10:52470175-52470176	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs534940992	chr10:52470178-52470179	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs555136018	chr10:52470192-52470193	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs575730530	chr10:52470193-52470194	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs190021242	chr10:52470197-52470198	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs61857103	chr10:52470213-52470214	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs369106301	chr10:52470226-52470227	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs377338107	chr10:52470257-52470258	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs540870083	chr10:52470305-52470306	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs10821611	chr10:52470348-52470349	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs182180368	chr10:52470408-52470409	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs546108712	chr10:52470417-52470418	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs562792370	chr10:52470446-52470447	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs530431679	chr10:52470449-52470450	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs11598950	chr10:52470484-52470485	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs562379081	chr10:52472011-52472012	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs574353455	chr10:52472032-52472033	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	18632612	CNVD
Autism	18414403	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
Cancer	21183584	CNVD
T-cell lymphomas	19863542	CNVD
Testicular germ cell tumor	18059402	CNVD
Squamous cell cancer	21044232	CNVD
Glioma	21971842	CNVD
Cancer	21637783	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Obesity	21956041	CNVD
Renal cell carcinoma	18765545	CNVD
Developmental delay	21948486	CNVD
Dysmorphic features	21948486	CNVD
Epilepsy	21948486	CNVD
Breast cancer	21785460	CNVD
Intellectual disability	21948486	CNVD
Intellectual disability	22045946	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Metanephric adenoma	20802469	CNVD
Autism	20841430	CNVD
Cancer	20164920	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Ollier disease	21235737	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Aortic dissecting aneurysms	22263138	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	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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