Variant report

Variant	rs5998272
Chromosome Location	chr22:32560045-32560046
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10483162	1.00[CEU][hapmap]
rs10483163	1.00[CEU][hapmap]
rs12157474	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12158162	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12160688	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1475997	1.00[CEU][hapmap]
rs1547411	1.00[CEU][hapmap]
rs17682385	1.00[CEU][hapmap]
rs17682583	1.00[CEU][hapmap]
rs17682819	1.00[CEU][hapmap]
rs17683011	1.00[CEU][hapmap]
rs17683310	1.00[CEU][hapmap]
rs17683430	1.00[CEU][hapmap]
rs17683448	1.00[CEU][hapmap]
rs17683471	1.00[CEU][hapmap]
rs17744899	1.00[CEU][hapmap]
rs17744994	0.90[CEU][hapmap]
rs17745543	1.00[CEU][hapmap]
rs2006867	1.00[CEU][hapmap]
rs2413063	1.00[CEU][hapmap]
rs2899173	1.00[CEU][hapmap]
rs2899174	1.00[CEU][hapmap]
rs2981852	0.84[EUR][1000 genomes]
rs41430344	1.00[CEU][hapmap]
rs45462396	0.95[EUR][1000 genomes]
rs45494991	0.95[EUR][1000 genomes]
rs4820061	1.00[CEU][hapmap]
rs4820067	1.00[CEU][hapmap]
rs4821003	1.00[CEU][hapmap]
rs4821006	1.00[CEU][hapmap]
rs4821013	1.00[CEU][hapmap]
rs4821016	1.00[CEU][hapmap]
rs4821018	1.00[CEU][hapmap]
rs4821020	1.00[CEU][hapmap]
rs4821021	1.00[CEU][hapmap]
rs4821022	1.00[CEU][hapmap]
rs4821023	1.00[CEU][hapmap]
rs4821024	1.00[CEU][hapmap]
rs4821025	1.00[CEU][hapmap]
rs4821027	1.00[CEU][hapmap]
rs4821031	1.00[CEU][hapmap]
rs4821037	1.00[CEU][hapmap]
rs5994483	0.82[EUR][1000 genomes]
rs5998256	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62238974	0.87[EUR][1000 genomes]
rs62238977	0.84[EUR][1000 genomes]
rs62238978	0.82[EUR][1000 genomes]
rs7289853	1.00[CEU][hapmap]
rs733907	1.00[CEU][hapmap]
rs733908	1.00[CEU][hapmap]
rs734091	1.00[CEU][hapmap]
rs734092	1.00[CEU][hapmap]
rs743763	0.89[CEU][hapmap]
rs743764	1.00[CEU][hapmap]
rs976915	1.00[CEU][hapmap]
rs976916	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834177	chr22:32416679-32594663	Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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
6	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
7	nsv834178	chr22:32490449-32677521	Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32555200-32560400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr22:32555600-32561600	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr22:32559400-32562400	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr22:32559800-32560600	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr22:32560000-32560200	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr22:32560000-32560400	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr22:32560000-32561200	Enhancers	Primary neutrophils fromperipheralblood	blood
8	chr22:32560000-32561200	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr22:32560000-32561400	Enhancers	Fetal Brain Male	brain
10	chr22:32560000-32561600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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