Variant report

Variant	rs7589959
Chromosome Location	chr2:55165465-55165466
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:55164082..55167109-chr2:55181433..55184478,3	K562	blood:
2	chr2:55164941..55167851-chr2:55169428..55172697,4	K562	blood:
3	chr2:55152934..55155386-chr2:55163705..55166391,2	K562	blood:
4	chr2:55164082..55168413-chr2:55180367..55184478,5	K562	blood:
5	chr2:55154430..55157005-chr2:55162762..55165481,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000214595	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10153551	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10153785	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10164886	0.81[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs10176018	0.90[ASN][1000 genomes]
rs10200365	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3821112	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4502460	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6545461	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6744548	0.94[ASW][hapmap];1.00[CEU][hapmap];0.90[GIH][hapmap];0.93[LWK][hapmap];0.93[MKK][hapmap];0.89[YRI][hapmap];0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6749322	0.86[LWK][hapmap];0.89[YRI][hapmap]
rs6759673	0.82[LWK][hapmap]
rs7355309	0.86[CEU][hapmap]
rs7586885	0.94[ASW][hapmap];1.00[CEU][hapmap];0.95[GIH][hapmap];0.91[LWK][hapmap];0.94[MKK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7590130	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7590241	1.00[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7590265	0.94[ASW][hapmap];1.00[CEU][hapmap];0.89[GIH][hapmap];0.93[LWK][hapmap];0.94[MKK][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7600676	0.94[ASW][hapmap];1.00[CEU][hapmap];0.95[GIH][hapmap];0.91[LWK][hapmap];0.93[MKK][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7606659	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9309261	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9808435	1.00[CEU][hapmap];0.82[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834069	chr2:55096597-55251680	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv582029	chr2:55159043-55204498	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55150000-55168400	Weak transcription	Pancreas	Pancrea
2	chr2:55154200-55166600	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr2:55154400-55168000	Weak transcription	Brain Cingulate Gyrus	brain
4	chr2:55154800-55167800	Weak transcription	Brain Angular Gyrus	brain

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