Variant report

Variant	rs12366549
Chromosome Location	chr12:29298717-29298718
allele	C/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	E2F6	chr12:29298226-29298737	H1-hESC	embryonic stem cell:	n/a	n/a
2	MAX	chr12:29298274-29298721	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
FAR2	TF binding region

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10743645	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10743647	0.83[EUR][1000 genomes]
rs10743648	0.84[EUR][1000 genomes]
rs10743649	0.84[EUR][1000 genomes]
rs10771486	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10771489	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10771492	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10771494	0.83[EUR][1000 genomes]
rs10843343	0.81[EUR][1000 genomes]
rs11050084	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11050098	0.88[EUR][1000 genomes]
rs11050099	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11050104	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11050108	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11050110	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11050112	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11050114	0.83[EUR][1000 genomes]
rs11502454	0.86[ASN][1000 genomes]
rs12305429	0.86[ASN][1000 genomes]
rs12309591	0.93[ASN][1000 genomes]
rs12310732	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12320204	0.96[ASN][1000 genomes]
rs1496218	0.84[EUR][1000 genomes]
rs1561132	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1826800	0.83[EUR][1000 genomes]
rs1845819	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1908690	0.83[EUR][1000 genomes]
rs1908691	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2349971	1.00[ASN][1000 genomes]
rs2349974	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4105125	0.84[EUR][1000 genomes]
rs4105126	0.84[EUR][1000 genomes]
rs4105127	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4105128	0.84[EUR][1000 genomes]
rs4141943	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4141945	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4323913	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4930856	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4930857	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4930858	0.88[EUR][1000 genomes]
rs4930859	0.84[EUR][1000 genomes]
rs4931158	0.88[EUR][1000 genomes]
rs4931162	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4931163	0.83[EUR][1000 genomes]
rs4931165	0.84[EUR][1000 genomes]
rs59113616	0.93[ASN][1000 genomes]
rs60329521	0.93[ASN][1000 genomes]
rs6487778	0.88[EUR][1000 genomes]
rs6487783	0.85[EUR][1000 genomes]
rs7294355	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7296268	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7297542	0.87[EUR][1000 genomes]
rs73254786	0.86[ASN][1000 genomes]
rs73265795	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73273123	0.93[ASN][1000 genomes]
rs7968949	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7974769	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7975191	0.84[EUR][1000 genomes]
rs7980923	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs924105	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs924107	0.84[EUR][1000 genomes]
rs924109	0.84[EUR][1000 genomes]
rs958478	0.84[EUR][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	nsv532233	chr12:29009388-29496179	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv995123	chr12:29095272-29571558	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv1053641	chr12:29268813-29854413	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	nsv819469	chr12:29285461-29303486	Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	esv3337951	chr12:29288734-29303032	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 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	chr12:29298200-29299400	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr12:29298400-29298800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr12:29298400-29299000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr12:29298400-29299600	Enhancers	H1 Cell Line	embryonic stem cell
5	chr12:29298400-29299600	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr12:29298600-29299400	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr12:29298600-29300600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr12:29298600-29301000	Weak transcription	Fetal Muscle Trunk	muscle

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