Variant report

Variant	rs5754049
Chromosome Location	chr22:32771017-32771018
allele	G/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
ENSG00000214093	Chromatin interaction
ENSG00000184708	Chromatin interaction
ENSG00000232707	Chromatin interaction
ENSG00000230866	Chromatin interaction
ENSG00000234479	Chromatin interaction
ENSG00000240647	Chromatin interaction
ENSG00000239674	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs2072815	0.86[JPT][hapmap];0.80[ASN][1000 genomes]
rs2076034	0.95[CHB][hapmap]
rs2076035	0.95[ASN][1000 genomes]
rs2076036	0.91[ASW][hapmap];0.91[CHB][hapmap];0.91[CHD][hapmap];0.90[JPT][hapmap];0.90[ASN][1000 genomes]
rs2142720	0.85[CHB][hapmap]
rs2413108	0.90[CEU][hapmap];0.91[CHB][hapmap];0.81[CHD][hapmap]
rs2413109	0.95[CEU][hapmap]
rs2413113	0.85[JPT][hapmap]
rs4343557	0.91[CHB][hapmap];0.84[CHD][hapmap]
rs5749407	0.91[CHB][hapmap];0.88[CHD][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs5749412	0.91[CHB][hapmap];0.80[ASN][1000 genomes]
rs5753999	0.81[ASN][1000 genomes]
rs5754020	0.95[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs5754026	0.90[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs5754027	0.89[CHB][hapmap]
rs5754028	0.90[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs5754030	0.91[CHB][hapmap]
rs5754036	0.91[CHB][hapmap];0.80[ASN][1000 genomes]
rs5754037	0.91[CHB][hapmap];0.80[ASN][1000 genomes]
rs5754040	0.91[CHB][hapmap];0.80[ASN][1000 genomes]
rs5754041	0.80[ASN][1000 genomes]
rs5754043	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs5754044	0.91[CHB][hapmap];0.80[ASN][1000 genomes]
rs5754051	0.96[ASN][1000 genomes]
rs58996666	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5998440	0.95[CHB][hapmap];0.84[CHD][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs5998446	0.93[ASN][1000 genomes]
rs5998451	0.91[CHB][hapmap]
rs5998456	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]
rs5998457	0.83[CHB][hapmap]
rs5998463	0.90[CHB][hapmap]
rs60953467	0.81[ASN][1000 genomes]
rs7285957	0.90[ASN][1000 genomes]
rs7287452	0.88[CHD][hapmap];0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs7291000	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs738267	0.91[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	nsv519170	chr22:32765949-32771017	Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 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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