Variant report

Variant	esv3446684
Chromosome Location	chr2:11816425-11816737
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	ARID3A	chr2:11816354-11816554	HepG2	liver:	n/a	n/a
2	BHLHE40	chr2:11816212-11816585	HepG2	liver:	n/a	n/a
3	BRCA1	chr2:11816206-11816757	Hela-S3	cervix:	n/a	n/a
4	CEBPB	chr2:11816246-11816460	IMR90	lung:	n/a	n/a
5	CEBPB	chr2:11816229-11816564	HepG2	liver:	n/a	n/a
6	CEBPB	chr2:11816162-11816878	Hela-S3	cervix:	n/a	n/a
7	CHD2	chr2:11816297-11816751	Hela-S3	cervix:	n/a	n/a
8	CHD2	chr2:11816496-11816600	HepG2	liver:	n/a	n/a
9	CTCF	chr2:11816480-11816630	HPF	lung:	n/a	n/a
10	CTCF	chr2:11816724-11817021	HepG2	liver:	n/a	n/a
11	CTCF	chr2:11816712-11816948	K562	blood:	n/a	n/a
12	CTCF	chr2:11816339-11817010	A549	lung:	n/a	n/a
13	CTCF	chr2:11816666-11816987	HepG2	liver:	n/a	n/a
14	CTCF	chr2:11816522-11817084	MCF-7	breast:	n/a	chr2:11817016-11817024 chr2:11817013-11817026
15	CTCF	chr2:11816641-11817079	K562	blood:	n/a	chr2:11817016-11817024 chr2:11817013-11817026
16	CTCF	chr2:11816600-11817113	MCF-7	breast:	n/a	chr2:11817016-11817024 chr2:11817013-11817026
17	CTCF	chr2:11816520-11816670	WERI-Rb-1	eye:	n/a	n/a
18	CTCF	chr2:11816660-11816810	HEK293	kidney:	n/a	n/a
19	E2F4	chr2:11816221-11816540	MCF10A-Er-Src	breast:	n/a	n/a
20	ELK1	chr2:11816710-11816793	Hela-S3	cervix:	n/a	n/a
21	EP300	chr2:11816343-11816549	HepG2	liver:	n/a	n/a
22	EP300	chr2:11816189-11816551	Hela-S3	cervix:	n/a	n/a
23	FOS	chr2:11816137-11816623	MCF10A-Er-Src	breast:	n/a	chr2:11816383-11816391
24	FOS	chr2:11816206-11816596	HUVEC	blood vessel:	n/a	chr2:11816383-11816391
25	FOS	chr2:11816158-11816568	MCF10A-Er-Src	breast:	n/a	chr2:11816383-11816391
26	FOS	chr2:11816189-11816608	MCF10A-Er-Src	breast:	n/a	chr2:11816383-11816391
27	FOS	chr2:11816209-11816606	MCF10A-Er-Src	breast:	n/a	chr2:11816383-11816391
28	FOSL2	chr2:11816105-11816657	HepG2	liver:	n/a	chr2:11816383-11816391
29	FOSL2	chr2:11816173-11816599	HepG2	liver:	n/a	chr2:11816383-11816391
30	FOXA1	chr2:11816217-11816678	HepG2	liver:	n/a	n/a
31	FOXA2	chr2:11816272-11816545	HepG2	liver:	n/a	n/a
32	GTF2F1	chr2:11816188-11816632	Hela-S3	cervix:	n/a	n/a
33	JUND	chr2:11816251-11816592	HepG2	liver:	n/a	chr2:11816401-11816412 chr2:11816383-11816391
34	JUND	chr2:11816164-11816716	Hela-S3	cervix:	n/a	chr2:11816401-11816412 chr2:11816383-11816391
35	KAP1	chr2:11816248-11816616	U2OS	brain:	n/a	n/a
36	MAFF	chr2:11816303-11816581	HepG2	liver:	n/a	n/a
37	MAFK	chr2:11816189-11816566	Hela-S3	cervix:	n/a	n/a
38	MAX	chr2:11816069-11816952	Hela-S3	cervix:	n/a	chr2:11816318-11816325
39	MAX	chr2:11816055-11816776	HepG2	liver:	n/a	chr2:11816318-11816325
40	MAX	chr2:11816110-11816756	Hela-S3	cervix:	n/a	chr2:11816318-11816325
41	MAX	chr2:11816236-11816521	HepG2	liver:	n/a	chr2:11816318-11816325
42	MAZ	chr2:11816347-11816586	Hela-S3	cervix:	n/a	n/a
43	MXI1	chr2:11816164-11816693	HepG2	liver:	n/a	n/a
44	MXI1	chr2:11816139-11816610	Hela-S3	cervix:	n/a	n/a
45	MYC	chr2:11816058-11816535	MCF10A-Er-Src	breast:	n/a	chr2:11816318-11816325
46	MYC	chr2:11815917-11816559	MCF10A-Er-Src	breast:	n/a	chr2:11816318-11816325
47	POLR2A	chr2:11816581-11816604	MCF10A-Er-Src	breast:	n/a	n/a
48	POLR2A	chr2:11816342-11816444	MCF10A-Er-Src	breast:	n/a	n/a
49	POLR2A	chr2:11816147-11816527	HUVEC	blood vessel:	n/a	n/a
50	RAD21	chr2:11816689-11816953	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
ENSG00000228496	TF binding region
LPIN1	TF binding region

Extended variants
information (count: 21 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs71394765	chr2:11816445-11816446	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs71675900	chr2:11816456-11816457	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs374089163	chr2:11816480-11816481	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs56069220	chr2:11816484-11816485	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs34370590	chr2:11816485-11816486	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs201947813	chr2:11816489-11816490	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs373759701	chr2:11816490-11816491	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs201421664	chr2:11816491-11816492	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs199722036	chr2:11816492-11816493	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs567264928	chr2:11816506-11816507	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs10675254	chr2:11816508-11816509	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs114567255	chr2:11816510-11816511	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs552946087	chr2:11816515-11816516	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs7578312	chr2:11816546-11816547	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs538423707	chr2:11816567-11816568	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs557514436	chr2:11816581-11816582	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs575789362	chr2:11816598-11816599	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
18	rs7422157	chr2:11816642-11816643	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
19	rs73915478	chr2:11816672-11816673	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs554997463	chr2:11816729-11816730	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
21	rs573106349	chr2:11816737-11816738	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Breast cancer	17133270	CNVD
Mental retardation	17847001	CNVD
Glioblastoma multiforme	21080181	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Cancer	20164920	CNVD
Neuroblastoma	21508638	CNVD
Breast cancer	17603634	CNVD
Cancer	16751803	CNVD
Neuroblastoma	16790693	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Ependymoma	16718352	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Glioma	17123091	CNVD
Breast cancer	20409316	CNVD
Multiple myeloma	16616336	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Breast cancer	22522925	CNVD
Medulloblastoma	20607354	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11810600-11816600	Weak transcription	Psoas Muscle	Psoas
2	chr2:11810600-11817000	Weak transcription	Right Ventricle	heart
3	chr2:11814800-11816800	Enhancers	Skeletal Muscle Male	skeletal muscle
4	chr2:11815000-11817600	Enhancers	Skeletal Muscle Female	skeletal muscle
5	chr2:11815400-11817000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr2:11816000-11816800	Flanking Active TSS	Hela-S3	cervix
7	chr2:11816000-11817000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr2:11816000-11817000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr2:11816000-11817000	Enhancers	NH-A	brain
10	chr2:11816000-11817200	Enhancers	HUVEC	blood vessel
11	chr2:11816000-11818000	Bivalent Enhancer	HepG2	liver
12	chr2:11816000-11818200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr2:11816400-11818000	Bivalent Enhancer	NHLF	lung
14	chr2:11816400-11818800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr2:11816400-11823200	Enhancers	Ovary	ovary
16	chr2:11816600-11817000	Enhancers	Brain Substantia Nigra	brain
17	chr2:11816600-11817200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr2:11816600-11817600	Enhancers	Psoas Muscle	Psoas
19	chr2:11816600-11819200	Bivalent Enhancer	Fetal Muscle Trunk	muscle

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