Variant report

Variant	rs73166340
Chromosome Location	chr22:32729546-32729547
allele	C/T
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]
rs11913228	0.81[ASN][1000 genomes]
rs11913841	0.81[ASN][1000 genomes]
rs16990376	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2142721	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28418991	0.81[ASN][1000 genomes]
rs28630758	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs41282595	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs41304681	0.81[ASN][1000 genomes]
rs41307235	0.88[ASN][1000 genomes]
rs55878163	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55938437	0.81[ASN][1000 genomes]
rs56101849	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs56150811	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs56317784	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs57570397	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs57649686	0.81[ASN][1000 genomes]
rs57787050	0.81[ASN][1000 genomes]
rs73166332	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73166337	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73166348	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73166368	0.81[ASN][1000 genomes]
rs73166369	0.81[ASN][1000 genomes]
rs73166401	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73168706	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73168710	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73400811	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs742097	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9609518	0.81[ASN][1000 genomes]
rs9621427	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9680823	0.81[EUR][1000 genomes];0.81[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:12 , 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	chr22:32722000-32729600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr22:32728200-32729600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr22:32728200-32730000	Weak transcription	Lung	lung
5	chr22:32728400-32729600	Weak transcription	Spleen	Spleen
6	chr22:32728400-32732000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr22:32728400-32732200	Weak transcription	HUVEC	blood vessel
8	chr22:32728600-32729800	Weak transcription	Gastric	stomach
9	chr22:32728800-32730800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr22:32729000-32731800	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr22:32729200-32730400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr22:32729400-32732600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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