Variant report

Variant	rs62239302
Chromosome Location	chr22:32730361-32730362
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10427626	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10427862	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16982521	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16990246	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1985543	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28578592	0.89[AFR][1000 genomes]
rs5998422	0.80[AMR][1000 genomes]
rs62239301	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62239303	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62239304	0.80[AMR][1000 genomes]
rs62239308	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62239309	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62239310	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62239311	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62239328	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62239330	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62239332	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62239335	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62239336	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62239337	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62239342	1.00[ASN][1000 genomes]
rs62239343	1.00[ASN][1000 genomes]
rs6518774	1.00[ASN][1000 genomes]
rs7286017	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7286847	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7287687	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs732885	0.80[AMR][1000 genomes]
rs8140343	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8141075	1.00[ASN][1000 genomes]
rs9621431	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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
9	esv3321885	chr22:32727952-32732150	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	n/a

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32721800-32731400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr22:32728400-32732000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr22:32728400-32732200	Weak transcription	HUVEC	blood vessel
4	chr22:32728800-32730800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr22:32729000-32731800	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr22:32729200-32730400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr22:32729400-32732600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr22:32729600-32731000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr22:32729800-32731200	Enhancers	Gastric	stomach
10	chr22:32730000-32730400	Enhancers	Lung	lung
11	chr22:32730000-32731400	Enhancers	Right Ventricle	heart
12	chr22:32730000-32731600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr22:32730200-32733200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland

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