Variant report

Variant	rs11050078
Chromosome Location	chr12:29298525-29298526
allele	A/G
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	USF2	chr12:29298360-29298607	H1-hESC	embryonic stem cell:	n/a	n/a
2	E2F6	chr12:29298226-29298737	H1-hESC	embryonic stem cell:	n/a	n/a
3	MAX	chr12:29298303-29298701	H1-hESC	embryonic stem cell:	n/a	n/a
4	USF1	chr12:29298398-29298628	H1-hESC	embryonic stem cell:	n/a	n/a
5	MAX	chr12:29298274-29298721	H1-hESC	embryonic stem cell:	n/a	n/a
6	USF1	chr12:29298371-29298628	K562	blood:	n/a	n/a
7	USF1	chr12:29298383-29298660	H1-hESC	embryonic stem cell:	n/a	n/a
8	CHD2	chr12:29298445-29298584	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
FAR2	TF binding region

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10843330	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10843331	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10843332	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10843333	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10843334	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10843336	0.84[EUR][1000 genomes]
rs10843338	0.83[EUR][1000 genomes]
rs11050035	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11050039	0.90[EUR][1000 genomes]
rs11050040	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11050046	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11050076	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11050077	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11050095	0.83[EUR][1000 genomes]
rs11050096	0.83[EUR][1000 genomes]
rs11050103	0.83[EUR][1000 genomes]
rs11050113	0.81[EUR][1000 genomes]
rs12049941	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12228075	0.90[EUR][1000 genomes]
rs12306316	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1390536	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1390537	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1587186	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34844277	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73071989	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7309466	0.82[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:7 , 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	chr12:29298400-29298600	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr12:29298400-29298600	Enhancers	Fetal Muscle Trunk	muscle
4	chr12:29298400-29298800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr12:29298400-29299000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr12:29298400-29299600	Enhancers	H1 Cell Line	embryonic stem cell
7	chr12:29298400-29299600	Enhancers	HUES6 Cell Line	embryonic stem cell

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