Variant report

Variant	rs72991752
Chromosome Location	chr2:141746049-141746050
allele	A/T
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	FOSL2	chr2:141745987-141746712	SK-N-SH	brain:	n/a	chr2:141746395-141746405 chr2:141746395-141746404 chr2:141746396-141746405 chr2:141746140-141746149 chr2:141746396-141746404 chr2:141746397-141746404
2	GATA3	chr2:141745730-141747214	SK-N-SH	brain:	n/a	n/a
3	MEF2A	chr2:141746012-141746609	SK-N-SH	brain:	n/a	n/a
4	PBX3	chr2:141745719-141746729	SK-N-SH	brain:	n/a	n/a
5	RXRA	chr2:141746009-141746626	SK-N-SH	brain:	n/a	chr2:141746396-141746405 chr2:141746395-141746404
6	EP300	chr2:141745905-141746806	SK-N-SH	brain:	n/a	chr2:141746395-141746404 chr2:141746396-141746405
7	NFIC	chr2:141745857-141746769	SK-N-SH	brain:	n/a	n/a
8	FOS	chr2:141745959-141746679	HUVEC	blood vessel:	n/a	chr2:141746394-141746405 chr2:141746395-141746405 chr2:141746395-141746404 chr2:141746396-141746405 chr2:141746379-141746390 chr2:141746140-141746149 chr2:141746396-141746404 chr2:141746397-141746404
9	FOXM1	chr2:141745774-141746712	SK-N-SH	brain:	n/a	n/a
10	TEAD4	chr2:141745986-141746646	SK-N-SH	brain:	n/a	n/a
11	TCF12	chr2:141745774-141747144	SK-N-SH	brain:	n/a	n/a
12	EP300	chr2:141745928-141746606	SK-N-SH_RA	brain:	n/a	chr2:141746395-141746404 chr2:141746396-141746405
13	JUND	chr2:141746016-141746728	SK-N-SH	brain:	n/a	chr2:141746395-141746405 chr2:141746395-141746404 chr2:141746396-141746405 chr2:141746140-141746149 chr2:141746396-141746404 chr2:141746379-141746390 chr2:141746397-141746404 chr2:141746394-141746405
14	GATA3	chr2:141745741-141747219	SK-N-SH	brain:	n/a	n/a
15	JUND	chr2:141745715-141747121	SK-N-SH	brain:	n/a	chr2:141746395-141746405 chr2:141746395-141746404 chr2:141746396-141746405 chr2:141746140-141746149 chr2:141746396-141746404 chr2:141746379-141746390 chr2:141746397-141746404 chr2:141745914-141745923 chr2:141746394-141746405
16	EP300	chr2:141745796-141747252	SK-N-SH	brain:	n/a	chr2:141746395-141746404 chr2:141746396-141746405
17	EP300	chr2:141745951-141747085	SK-N-SH_RA	brain:	n/a	chr2:141746395-141746404 chr2:141746396-141746405
18	EP300	chr2:141745870-141746687	SK-N-SH	brain:	n/a	chr2:141746395-141746404 chr2:141746396-141746405
19	TCF12	chr2:141745706-141746821	SK-N-SH	brain:	n/a	n/a
20	PBX3	chr2:141745959-141746711	SK-N-SH	brain:	n/a	n/a
21	RXRA	chr2:141745997-141746720	SK-N-SH	brain:	n/a	chr2:141746396-141746405 chr2:141746395-141746404
22	JUND	chr2:141745958-141746758	SK-N-SH	brain:	n/a	chr2:141746395-141746405 chr2:141746395-141746404 chr2:141746396-141746405 chr2:141746140-141746149 chr2:141746396-141746404 chr2:141746379-141746390 chr2:141746397-141746404 chr2:141746394-141746405

Variant related genes	Relation type
ENSG00000201892	TF binding region

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1429361	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60047991	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs72975021	0.93[EUR][1000 genomes]
rs72975031	0.93[EUR][1000 genomes]
rs72975035	0.93[EUR][1000 genomes]
rs72975043	0.93[EUR][1000 genomes]
rs72991755	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs72991770	0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv583198	chr2:141510791-142150620	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1003008	chr2:141518795-141763505	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv875208	chr2:141657878-141795620	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv1014208	chr2:141707558-141790148	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv817518	chr2:141714174-142287302	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:141744400-141746800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:141745400-141746400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr2:141745400-141746400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr2:141745600-141746800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr2:141745600-141747200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr2:141745600-141747200	Enhancers	HUVEC	blood vessel
7	chr2:141745800-141748200	Enhancers	Muscle Satellite Cultured Cells	--
8	chr2:141746000-141747200	Enhancers	Hela-S3	cervix

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