Variant report

Variant	rs12452633
Chromosome Location	chr17:33890780-33890781
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF384	chr17:33890500-33890996	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:33883508..33885797-chr17:33888017..33890924,2	MCF-7	breast:
2	chr17:33886372..33890944-chr17:33891247..33895229,11	K562	blood:

Variant related genes	Relation type
ENSG00000267625	TF binding region
ENSG00000242660	TF binding region
ENSG00000267321	TF binding region
ENSG00000236320	Chromatin interaction
ENSG00000267321	Chromatin interaction
ENSG00000242660	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1037591	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10491114	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes]
rs10491115	0.81[AMR][1000 genomes]
rs11870399	0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12452961	0.81[ASN][1000 genomes]
rs12600662	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12603142	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs16971117	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16971122	0.89[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1964509	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2079924	1.00[AFR][1000 genomes]
rs226424	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs226427	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs226433	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs226435	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs226436	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2278950	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2301731	0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs28384428	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs28384429	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs28661650	0.81[AMR][1000 genomes]
rs3760325	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes]
rs3785759	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs3785763	1.00[AFR][1000 genomes]
rs62079728	0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7211363	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs9303689	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs9891317	0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs9904644	0.90[JPT][hapmap];0.88[ASN][1000 genomes]
rs9904957	0.85[AMR][1000 genomes]
rs9906037	0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]

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	nsv534371	chr17:33456878-34094068	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	137 gene(s)	inside rSNPs	diseases
2	nsv908079	chr17:33849869-34034851	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
3	nsv1060890	chr17:33884124-34011034	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
4	nsv543318	chr17:33884124-34011034	Genic enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	40 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	chr17:33888600-33894200	Weak transcription	Primary hematopoietic stem cells	blood
2	chr17:33889600-33894000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr17:33889800-33894000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr17:33890600-33892200	Flanking Active TSS	K562	blood

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