Variant report

Variant	rs1968578
Chromosome Location	chr17:33892949-33892950
allele	C/T
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	TBP	chr17:33892802-33892966	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:33891810..33896606-chr17:33903023..33907452,11	MCF-7	breast:
2	chr17:33892195..33894200-chr17:34134782..34137507,2	K562	blood:
3	chr17:33891678..33894359-chr17:33894876..33897610,2	MCF-7	breast:
4	chr17:33886372..33890944-chr17:33891247..33895229,11	K562	blood:

Variant related genes	Relation type
ENSG00000267321	TF binding region
ENSG00000267625	TF binding region
ENSG00000242660	TF binding region
ENSG00000267578	Chromatin interaction
ENSG00000267321	Chromatin interaction
ENSG00000006125	Chromatin interaction
ENSG00000267625	Chromatin interaction
ENSG00000172660	Chromatin interaction
ENSG00000108733	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1001441	0.87[ASN][1000 genomes]
rs1037590	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10512472	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1071965	0.83[ASN][1000 genomes]
rs11653310	0.84[ASN][1000 genomes]
rs11653357	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11870472	0.86[ASN][1000 genomes]
rs12452797	0.99[ASN][1000 genomes]
rs12948669	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs16971217	0.81[EUR][1000 genomes]
rs17637907	0.84[ASN][1000 genomes]
rs2840044	0.84[ASN][1000 genomes]
rs28498569	0.87[ASN][1000 genomes]
rs2889311	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34054049	0.87[ASN][1000 genomes]
rs35237539	0.81[EUR][1000 genomes]
rs7503168	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9891800	0.83[ASN][1000 genomes]
rs9894057	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9902765	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9905788	0.87[ASN][1000 genomes]
rs9906105	0.87[ASN][1000 genomes]
rs9908158	0.83[ASN][1000 genomes]
rs9913003	0.84[ASN][1000 genomes]

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	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
5	nsv960465	chr17:33891831-33894995	Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	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	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	chr17:33892200-33893600	Enhancers	K562	blood

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