Variant report

Variant	rs9608766
Chromosome Location	chr22:29828040-29828041
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs105268	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs165602	0.89[EUR][1000 genomes]
rs165607	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs165624	0.89[EUR][1000 genomes]
rs165649	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs165697	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs165734	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs165821	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs165823	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs165853	0.83[AMR][1000 genomes]
rs165899	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs174649	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs174718	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs174721	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs174722	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs424541	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs447914	0.81[EUR][1000 genomes]
rs465736	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs5752914	0.81[ASN][1000 genomes]
rs5763229	0.94[ASN][1000 genomes]
rs5763238	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs5763247	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9306464	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9613908	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9613915	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531586	chr22:29252132-29902266	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv834171	chr22:29626402-29829844	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv529742	chr22:29677909-30274388	Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	nsv1058156	chr22:29772043-30024013	Strong transcription Enhancers Genic enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv544675	chr22:29772043-30024013	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv1059994	chr22:29797373-29834766	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv1060197	chr22:29817507-29842511	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv966046	chr22:29822806-29830680	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	nsv964556	chr22:29822806-29833351	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv1062373	chr22:29826745-30092448	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
11	nsv544676	chr22:29826745-30092448	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
12	nsv1064081	chr22:29826745-30623965	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
13	nsv544677	chr22:29826745-30623965	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29826800-29828400	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr22:29827200-29828400	Enhancers	H1 Cell Line	embryonic stem cell
3	chr22:29827200-29828400	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr22:29827200-29828800	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr22:29827200-29828800	Enhancers	Fetal Intestine Small	intestine
6	chr22:29827200-29829000	Enhancers	Fetal Intestine Large	intestine
7	chr22:29827400-29828200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr22:29827600-29828600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr22:29827600-29828600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr22:29828000-29828200	Active TSS	HUES64 Cell Line	embryonic stem cell
11	chr22:29828000-29828600	Enhancers	K562	blood
12	chr22:29828000-29829000	Enhancers	HUES6 Cell Line	embryonic stem cell

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