Variant report

Variant	rs5994466
Chromosome Location	chr22:32518130-32518131
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	22:32012966-32043914..22:32513817-32522138	K562	blood:
2	22:32513817-32522138..22:32750950-32761732	H1-hESC	embryonic stem cell:	embryo
3	22:32513817-32522138..22:32860159-32865649	K562	blood:
4	22:31961151-31976153..22:32513817-32522138	K562	blood:
5	22:32513817-32522138..22:32740683-32750950	K562	blood:
6	22:32513817-32522138..22:32764253-32784733	H1-hESC	embryonic stem cell:	embryo
7	22:32513817-32522138..22:32868055-32872511	K562	blood:

Variant related genes	Relation type
ENSG00000232218	Chromatin interaction
ENSG00000241954	Chromatin interaction
ENSG00000241878	Chromatin interaction
ENSG00000184459	Chromatin interaction
ENSG00000205853	Chromatin interaction
ENSG00000100225	Chromatin interaction
ENSG00000230736	Chromatin interaction
ENSG00000198089	Chromatin interaction
ENSG00000243519	Chromatin interaction
ENSG00000128276	Chromatin interaction
ENSG00000271093	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1056444	0.87[LWK][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs130260	0.81[AMR][1000 genomes]
rs130261	0.81[AMR][1000 genomes]
rs130262	1.00[YRI][hapmap];0.81[AMR][1000 genomes]
rs130266	0.92[ASW][hapmap];0.95[GIH][hapmap];1.00[LWK][hapmap];0.96[MKK][hapmap];0.82[TSI][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes]
rs130407	0.93[ASW][hapmap];0.88[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs135021	1.00[YRI][hapmap];0.81[AMR][1000 genomes]
rs135023	0.92[ASW][hapmap];0.91[GIH][hapmap];1.00[LWK][hapmap];0.94[MEX][hapmap];0.94[MKK][hapmap];0.81[TSI][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes]
rs135110	0.92[ASW][hapmap];0.95[GIH][hapmap];1.00[LWK][hapmap];0.94[MEX][hapmap];0.96[MKK][hapmap];0.84[TSI][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs135111	0.83[CEU][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17683807	0.81[CHB][hapmap]
rs2413069	0.81[CHB][hapmap]
rs2413070	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4821004	0.82[GIH][hapmap];0.94[LWK][hapmap];0.81[MKK][hapmap];0.82[YRI][hapmap]
rs4821014	0.81[LWK][hapmap];1.00[YRI][hapmap]
rs5753843	0.81[LWK][hapmap];1.00[YRI][hapmap]
rs5753852	0.81[AMR][1000 genomes]
rs5994468	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5998233	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs5998237	0.85[ASW][hapmap];0.92[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7291239	0.94[EUR][1000 genomes]
rs739009	0.87[LWK][hapmap];1.00[YRI][hapmap]
rs8137665	0.92[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs8141732	0.81[CHB][hapmap]
rs93108	1.00[YRI][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9606906	0.92[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9609429	0.81[CHB][hapmap]
rs9609433	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][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	nsv1060529	chr22:32370432-32525699	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	nsv979670	chr22:32512481-32525114	Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs5994466	LARGE	cis	cerebellum	SCAN
rs5994466	OSBP2	cis	parietal	SCAN

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32515600-32520000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr22:32515800-32533600	Weak transcription	Right Atrium	heart
3	chr22:32518000-32520200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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