Variant report

Variant	rs68023238
Chromosome Location	chr22:32740311-32740312
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	ESRRA	chr22:32738635-32740464	GM12878	blood:	n/a	chr22:32740196-32740209

Variant related genes	Relation type
ENSG00000234626	TF binding region

Extended variants
information (count: 34 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11545749	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11703546	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12167726	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16990408	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28783498	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35856742	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55807703	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56028423	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56034165	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57686081	0.90[EUR][1000 genomes]
rs5998418	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5998424	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5998473	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61095402	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67737467	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67967684	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs68016118	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68125825	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73166344	1.00[ASN][1000 genomes]
rs73166353	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73166400	0.84[EUR][1000 genomes]
rs73168708	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73168732	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73170304	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73170321	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9619261	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948789	chr22:32462505-32764760	Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
2	nsv1065175	chr22:32467617-32761093	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
3	nsv544680	chr22:32467617-32761093	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
4	esv2830423	chr22:32477718-32767825	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
5	esv2422247	chr22:32486448-32788258	Strong transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
6	nsv459874	chr22:32574274-32866934	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
7	nsv588895	chr22:32574274-32866934	Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
8	nsv1064737	chr22:32603912-32829725	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32736400-32741800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr22:32736800-32744200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr22:32738000-32741800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr22:32739600-32742400	Enhancers	HUVEC	blood vessel
5	chr22:32740200-32752000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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