Variant report

Variant	esv3400836
Chromosome Location	chr10:43059546-43063144
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	chr10:43062280-43062430	HepG2	liver:	n/a	n/a
2	MAFK	chr10:43061410-43061572	HepG2	liver:	n/a	n/a
3	POLR2A	chr10:43060615-43060851	GM12878	blood:	n/a	n/a
4	SRF	chr10:43062519-43062610	GM12878	blood:	n/a	n/a
5	STAT3	chr10:43061111-43061508	MCF10A-Er-Src	breast:	n/a	chr10:43061433-43061444

Variant related genes	Relation type
EIF3LP2	TF binding region

Extended variants
information (count: 29 )
Associated
traits (count: 55 )

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	rs143894884	chr10:43060618-43060619	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs545070675	chr10:43060625-43060626	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs563444888	chr10:43060638-43060639	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs530968842	chr10:43060641-43060642	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs543197148	chr10:43060642-43060643	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs561370169	chr10:43060681-43060682	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs12771076	chr10:43060725-43060726	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs554697023	chr10:43060726-43060727	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs547014488	chr10:43060728-43060729	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs183061291	chr10:43060760-43060761	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs575086501	chr10:43060765-43060766	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs60023833	chr10:43060774-43060775	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs397780671	chr10:43060775-43060776	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs532980771	chr10:43060800-43060801	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs188481036	chr10:43060837-43060838	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs183207466	chr10:43061121-43061122	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs187892967	chr10:43061158-43061159	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs111898388	chr10:43061209-43061210	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs541081761	chr10:43061229-43061230	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs560889542	chr10:43061253-43061254	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs148584284	chr10:43061368-43061369	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs561375328	chr10:43061374-43061375	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs11239678	chr10:43061443-43061444	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs191204796	chr10:43061447-43061448	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs530610649	chr10:43061468-43061469	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs559503532	chr10:43061497-43061498	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs528163439	chr10:43061502-43061503	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs567425925	chr10:43061525-43061526	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs200281825	chr10:43061565-43061566	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:55)

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
Lung cancer	18438408	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
Mental retardation	21062444	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
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	22241247	CNVD
Intellectual disability	21811512	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Obesity	21956041	CNVD
Lung cancer	21569311	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21785460	CNVD
Autism	20531469	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	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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