Variant report

Variant	rs876597
Chromosome Location	chr3:48391508-48391509
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	chr3:48389115..48391524-chr3:48440665..48443263,2	MCF-7	breast:
2	chr3:48228173..48230589-chr3:48390123..48392372,2	K562	blood:

Variant related genes	Relation type
ENSG00000164045	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs11130161	0.82[ASW][hapmap];0.91[MKK][hapmap];1.00[YRI][hapmap]
rs12630599	0.85[EUR][1000 genomes]
rs13062576	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs1380053	0.82[ASW][hapmap]
rs1380260	0.84[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs1459243	0.95[EUR][1000 genomes]
rs1459244	0.95[EUR][1000 genomes]
rs1459245	0.82[EUR][1000 genomes]
rs1459247	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17080119	0.84[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs1870441	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs34138269	0.84[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs34146962	0.82[AFR][1000 genomes]
rs34537842	0.84[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs34857497	0.84[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs35703936	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3731532	0.82[ASW][hapmap];0.86[MKK][hapmap];1.00[YRI][hapmap]
rs3731539	0.82[ASW][hapmap];1.00[YRI][hapmap]
rs3731547	1.00[YRI][hapmap]
rs4858813	0.84[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs4858814	0.84[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs4858818	1.00[YRI][hapmap]
rs6762888	0.82[ASW][hapmap]
rs9852211	0.82[ASW][hapmap];1.00[YRI][hapmap]
rs986739	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes]
rs986740	1.00[CEU][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes]
rs986741	0.90[EUR][1000 genomes]
rs986742	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.95[EUR][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	nsv834683	chr3:48301504-48493261	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	nsv834684	chr3:48385699-48589323	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs876597	ZNF589	cis	multi-tissue	Pritchard

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:48387800-48391600	Weak transcription	HSMMtube	muscle
2	chr3:48389400-48393600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr3:48389600-48393600	Weak transcription	NHEK	skin
4	chr3:48391400-48393200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr3:48391400-48393800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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