Variant report

Variant	rs5994546
Chromosome Location	chr22:32736502-32736503
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11089558	1.00[EUR][1000 genomes]
rs11912086	1.00[EUR][1000 genomes]
rs11912716	1.00[EUR][1000 genomes]
rs11914186	1.00[EUR][1000 genomes]
rs12159901	1.00[EUR][1000 genomes]
rs28702904	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58900751	1.00[EUR][1000 genomes]
rs59625475	1.00[EUR][1000 genomes]
rs59857514	1.00[EUR][1000 genomes]
rs5994545	1.00[EUR][1000 genomes]
rs5994548	1.00[EUR][1000 genomes]
rs5998426	1.00[EUR][1000 genomes]
rs60043294	1.00[EUR][1000 genomes]
rs61138259	1.00[EUR][1000 genomes]
rs7286662	1.00[EUR][1000 genomes]
rs7287940	1.00[EUR][1000 genomes]
rs7289771	1.00[EUR][1000 genomes]
rs73402917	1.00[EUR][1000 genomes]
rs73402918	1.00[EUR][1000 genomes]
rs8140225	1.00[EUR][1000 genomes]
rs9621429	1.00[EUR][1000 genomes]
rs9621433	1.00[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:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32731000-32737200	Weak transcription	Right Atrium	heart
2	chr22:32731000-32737400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr22:32732200-32737600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr22:32734600-32736600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr22:32735400-32736800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr22:32735400-32739600	Weak transcription	HUVEC	blood vessel
7	chr22:32736000-32736800	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr22:32736000-32737800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr22:32736200-32736600	Bivalent Enhancer	Brain Anterior Caudate	brain
10	chr22:32736200-32736600	Flanking Bivalent TSS/Enh	Brain Inferior Temporal Lobe	brain
11	chr22:32736200-32737000	Active TSS	Brain Substantia Nigra	brain
12	chr22:32736400-32736800	Enhancers	Brain Germinal Matrix	brain
13	chr22:32736400-32736800	Active TSS	Brain Hippocampus Middle	brain
14	chr22:32736400-32741800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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