Variant report

Variant	rs17792467
Chromosome Location	chr2:55716481-55716482
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:55641621..55644231-chr2:55715263..55717892,2	K562	blood:
2	chr2:55716414..55718011-chr2:55844321..55846630,2	K562	blood:
3	chr2:55714333..55716529-chr2:55717522..55719586,2	K562	blood:
4	chr2:55709620..55711839-chr2:55714950..55717947,2	K562	blood:
5	chr2:55459396..55462117-chr2:55715734..55717681,2	K562	blood:

Variant related genes	Relation type
ENSG00000272606	Chromatin interaction
ENSG00000162994	Chromatin interaction
ENSG00000143947	Chromatin interaction
ENSG00000138041	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10496046	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1373228	1.00[YRI][hapmap]
rs1563201	1.00[YRI][hapmap]
rs17736028	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17736159	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17736300	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17744287	0.91[AMR][1000 genomes]
rs17744399	1.00[CEU][hapmap];0.91[AMR][1000 genomes]
rs17792521	0.86[ASN][1000 genomes]
rs17792539	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17792972	0.94[EUR][1000 genomes]
rs2586949	1.00[YRI][hapmap]
rs2586965	1.00[YRI][hapmap]
rs35232864	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3748950	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs56043131	0.91[AMR][1000 genomes]
rs59722606	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs60555175	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72801573	0.86[ASN][1000 genomes]
rs73940015	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73940017	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73940018	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73942925	0.91[AMR][1000 genomes]
rs7559307	1.00[YRI][hapmap]
rs782589	1.00[YRI][hapmap]
rs782603	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006170	chr2:55530179-55809251	Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv520581	chr2:55622825-55903016	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv531374	chr2:55653723-56299784	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	nsv874160	chr2:55713102-55828974	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers 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 miRNA target site	11 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	chr2:55710000-55716800	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr2:55711000-55717000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr2:55715000-55717800	Weak transcription	K562	blood
4	chr2:55715600-55717400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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