Variant report

Variant	rs72731898
Chromosome Location	chr14:70698936-70698937
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	BHLHE40	chr14:70698871-70699221	GM12878	blood:	n/a	n/a
2	SPI1	chr14:70698863-70699260	GM12891	blood:	n/a	n/a
3	SPI1	chr14:70698633-70699415	GM12878	blood:	n/a	n/a
4	SPI1	chr14:70698913-70699209	GM12878	blood:	n/a	n/a
5	SPI1	chr14:70698871-70699248	GM12891	blood:	n/a	n/a
6	TAL1	chr14:70698929-70698950	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:70691907..70694267-chr14:70697780..70699341,2	K562	blood:

Variant related genes	Relation type
ENSG00000270610	TF binding region

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs11621233	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11622454	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11623231	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11623788	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11623909	0.86[AMR][1000 genomes]
rs11626919	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11628786	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11629081	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12879701	1.00[AFR][1000 genomes]
rs12880065	1.00[AFR][1000 genomes]
rs12889575	1.00[AFR][1000 genomes]
rs12890852	1.00[AFR][1000 genomes]
rs12891402	1.00[AFR][1000 genomes]
rs12898006	1.00[AFR][1000 genomes]
rs1593376	0.88[EUR][1000 genomes]
rs17474359	1.00[AFR][1000 genomes]
rs17566989	1.00[AFR][1000 genomes]
rs2162125	0.88[EUR][1000 genomes]
rs2296918	0.91[EUR][1000 genomes]
rs34506335	1.00[AFR][1000 genomes]
rs34668417	1.00[AFR][1000 genomes]
rs35034872	1.00[AFR][1000 genomes]
rs35224988	1.00[AFR][1000 genomes]
rs35547503	1.00[AFR][1000 genomes]
rs35697534	1.00[AFR][1000 genomes]
rs4902794	0.93[EUR][1000 genomes]
rs55692830	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56113470	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs67417438	1.00[AFR][1000 genomes]
rs7153452	0.93[EUR][1000 genomes]
rs72731861	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72731878	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72731882	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72731883	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72731885	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72731887	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72731896	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72733703	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72733705	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72733709	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72733718	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72733725	1.00[AFR][1000 genomes]
rs72733739	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832826	chr14:70559589-70723464	Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv902075	chr14:70612618-70919016	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv983840	chr14:70696676-70714926	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70691000-70703400	Weak transcription	K562	blood
2	chr14:70697400-70699200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr14:70697400-70719400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr14:70697600-70699200	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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