Variant report

Variant	rs5998456
Chromosome Location	chr22:32764388-32764389
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	22:31829733-31836635..22:32764253-32784733	K562	blood:
2	22:31936958-31958600..22:32764253-32784733	K562	blood:
3	22:32529813-32538538..22:32764253-32784733	H1-hESC	embryonic stem cell:	embryo
4	22:32513817-32522138..22:32764253-32784733	H1-hESC	embryonic stem cell:	embryo
5	22:32360288-32405313..22:32764253-32784733	K562	blood:

Variant related genes	Relation type
ENSG00000184708	Chromatin interaction
ENSG00000230866	Chromatin interaction
ENSG00000234479	Chromatin interaction
ENSG00000232707	Chromatin interaction
ENSG00000214093	Chromatin interaction
ENSG00000240647	Chromatin interaction
ENSG00000239674	Chromatin interaction

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs12160986	0.83[CHB][hapmap];0.81[JPT][hapmap]
rs12484023	0.80[EUR][1000 genomes]
rs16987625	0.80[CHB][hapmap];0.81[JPT][hapmap]
rs16990262	0.82[CHB][hapmap];0.80[JPT][hapmap]
rs16990428	0.80[JPT][hapmap]
rs2076034	1.00[CHB][hapmap]
rs2076035	0.96[ASN][1000 genomes]
rs2076036	0.85[ASW][hapmap];0.91[CHB][hapmap];0.93[CHD][hapmap];0.90[ASN][1000 genomes]
rs2142720	0.80[CHB][hapmap]
rs2281034	0.84[JPT][hapmap]
rs2281035	0.80[JPT][hapmap]
rs2413108	0.90[CEU][hapmap];0.91[CHB][hapmap];0.91[GIH][hapmap];0.82[TSI][hapmap];0.81[EUR][1000 genomes]
rs2413109	0.95[CEU][hapmap]
rs2899185	0.83[CHB][hapmap];0.81[JPT][hapmap]
rs4343557	0.91[CHB][hapmap];0.81[CHD][hapmap]
rs5749406	0.81[EUR][1000 genomes]
rs5749407	0.91[CHB][hapmap];0.85[CHD][hapmap];0.89[ASN][1000 genomes]
rs5749409	0.82[CHB][hapmap]
rs5749412	0.95[CHB][hapmap];0.90[JPT][hapmap]
rs5749413	0.82[CHB][hapmap];0.81[JPT][hapmap]
rs5749416	0.80[JPT][hapmap]
rs5753999	0.81[ASN][1000 genomes]
rs5754003	0.83[CHB][hapmap]
rs5754008	0.83[CHB][hapmap];0.81[JPT][hapmap]
rs5754009	0.83[CHB][hapmap];0.85[JPT][hapmap]
rs5754010	0.83[CHB][hapmap];0.81[JPT][hapmap]
rs5754016	0.80[ASN][1000 genomes]
rs5754018	0.83[CHB][hapmap];0.85[JPT][hapmap]
rs5754020	0.95[CHB][hapmap];0.95[ASN][1000 genomes]
rs5754026	0.92[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs5754027	0.95[CHB][hapmap];0.84[JPT][hapmap];0.80[ASN][1000 genomes]
rs5754028	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs5754029	0.82[CHB][hapmap]
rs5754030	0.95[CHB][hapmap];0.85[JPT][hapmap];0.80[ASN][1000 genomes]
rs5754035	0.83[CHB][hapmap];0.85[JPT][hapmap]
rs5754036	0.95[CHB][hapmap];0.90[JPT][hapmap]
rs5754037	0.95[CHB][hapmap];0.89[JPT][hapmap]
rs5754039	0.83[CHB][hapmap];0.81[JPT][hapmap]
rs5754040	0.95[CHB][hapmap];0.85[JPT][hapmap]
rs5754042	0.83[CHB][hapmap];0.80[JPT][hapmap]
rs5754043	1.00[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs5754044	0.95[CHB][hapmap];0.85[JPT][hapmap]
rs5754045	0.82[CHB][hapmap];0.80[JPT][hapmap]
rs5754049	0.91[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.85[GIH][hapmap];0.84[JPT][hapmap];0.89[LWK][hapmap];0.96[MEX][hapmap];0.94[TSI][hapmap];0.93[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5754050	0.81[CHB][hapmap]
rs5754051	0.95[ASN][1000 genomes]
rs58996666	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5998440	0.95[CHB][hapmap];0.86[CHD][hapmap];0.95[ASN][1000 genomes]
rs5998446	0.94[ASN][1000 genomes]
rs5998451	0.95[CHB][hapmap];0.90[JPT][hapmap];0.80[ASN][1000 genomes]
rs5998457	0.83[CHB][hapmap];0.89[JPT][hapmap]
rs5998459	0.85[JPT][hapmap]
rs5998463	0.95[CHB][hapmap];0.85[JPT][hapmap]
rs60953467	0.81[ASN][1000 genomes]
rs7285957	0.89[ASN][1000 genomes]
rs7287452	0.88[CHD][hapmap];0.81[ASN][1000 genomes]
rs7291000	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs738267	0.95[CHB][hapmap];0.90[JPT][hapmap];0.80[ASN][1000 genomes]
rs742096	0.80[JPT][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	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	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
3	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
4	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
5	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
6	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
7	esv1817721	chr22:32758417-32770340	Enhancers Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32755800-32781600	Weak transcription	Ovary	ovary
2	chr22:32762800-32788200	Weak transcription	Psoas Muscle	Psoas

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