Variant report

Variant	esv2027100
Chromosome Location	chr2:145777690-145778109
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	BCL3	chr2:145778097-145778750	A549	lung:	n/a	n/a
2	CEBPB	chr2:145777947-145778173	K562	blood:	n/a	chr2:145778036-145778047
3	CEBPB	chr2:145777889-145778537	A549	lung:	n/a	chr2:145778036-145778047
4	CEBPB	chr2:145777890-145778146	HepG2	liver:	n/a	chr2:145778036-145778047
5	CEBPB	chr2:145777909-145778576	IMR90	lung:	n/a	chr2:145778036-145778047
6	CEBPD	chr2:145777713-145778162	K562	blood:	n/a	n/a
7	EP300	chr2:145778081-145778742	A549	lung:	n/a	n/a
8	EP300	chr2:145777971-145778883	A549	lung:	n/a	n/a
9	FOSL2	chr2:145778065-145778779	A549	lung:	n/a	n/a
10	GATA3	chr2:145778000-145778878	A549	lung:	n/a	n/a
11	TCF12	chr2:145778029-145778815	A549	lung:	n/a	n/a

Variant related genes	Relation type
TEX41	TF binding region

Extended variants
information (count: 33 )
Associated
traits (count: 48 )

Variant overlapped rSNPs/rCNVs (count:33 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143845800	chr2:145777724-145777725	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs185711637	chr2:145777756-145777757	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs565733977	chr2:145777768-145777769	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs538081404	chr2:145777791-145777792	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs12996204	chr2:145777814-145777815	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs375105773	chr2:145777846-145777847	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs369783355	chr2:145777847-145777848	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs75239159	chr2:145777867-145777868	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs143249224	chr2:145777868-145777869	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs546936064	chr2:145777876-145777877	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs73965125	chr2:145777877-145777878	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs59518251	chr2:145777881-145777882	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs555386826	chr2:145777888-145777889	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs376146214	chr2:145777896-145777897	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs201250124	chr2:145777899-145777900	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs573702885	chr2:145777908-145777909	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs73965126	chr2:145777909-145777910	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs548272651	chr2:145777912-145777913	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs559610021	chr2:145777913-145777914	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs67478666	chr2:145777916-145777917	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs74267431	chr2:145777920-145777921	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs578027630	chr2:145777925-145777926	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs545708449	chr2:145777928-145777929	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs190383876	chr2:145777929-145777930	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs531679880	chr2:145777936-145777937	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs550097666	chr2:145777937-145777938	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs561922578	chr2:145777958-145777959	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs528912296	chr2:145778024-145778025	Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs547341259	chr2:145778032-145778033	Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs149015212	chr2:145778051-145778052	Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs533028918	chr2:145778069-145778070	Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs75692200	chr2:145778073-145778074	Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs13001583	chr2:145778108-145778109	Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:48)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Mental retardation	22214275	CNVD
Glioblastoma	21080181	CNVD
Non-syndromic sensorineural hearing loss	20456320	CNVD
Hirschsprung''s Disease	21712996	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:145770000-145780400	Weak transcription	Ovary	ovary
2	chr2:145770400-145778200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr2:145770600-145779200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr2:145770600-145779400	Weak transcription	Fetal Lung	lung
5	chr2:145770600-145779600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr2:145771200-145782600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr2:145773600-145779600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr2:145773600-145780800	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr2:145773800-145779600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr2:145774600-145778200	Weak transcription	NHDF-Ad	bronchial
11	chr2:145775200-145778200	Weak transcription	Osteobl	bone
12	chr2:145775600-145778200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr2:145776400-145779000	Weak transcription	NHLF	lung
14	chr2:145776600-145779600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr2:145776800-145778000	Enhancers	A549	lung
16	chr2:145777600-145778400	Weak transcription	HSMM	muscle
17	chr2:145778000-145778200	Flanking Active TSS	A549	lung

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