Variant report

Variant	rs1292588
Chromosome Location	chr21:15992747-15992748
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	EP300	chr21:15992682-15992858	GM12878	blood:	n/a	n/a
2	USF2	chr21:15992596-15992908	GM12878	blood:	n/a	n/a
3	CTCF	chr21:15992660-15992810	GM12871	blood:	n/a	n/a
4	RUNX3	chr21:15992473-15992899	GM12878	blood:	n/a	n/a
5	RUNX3	chr21:15992533-15992918	GM12878	blood:	n/a	n/a
6	SPI1	chr21:15992447-15992937	HL-60	blood:	n/a	n/a
7	SPI1	chr21:15992480-15992864	GM12878	blood:	n/a	n/a
8	BHLHE40	chr21:15992596-15992797	GM12878	blood:	n/a	n/a
9	EP300	chr21:15992642-15992869	GM12878	blood:	n/a	n/a
10	BATF	chr21:15992560-15992870	GM12878	blood:	n/a	n/a
11	CHD2	chr21:15992583-15992808	GM12878	blood:	n/a	n/a
12	SPI1	chr21:15992485-15992890	GM12891	blood:	n/a	n/a
13	BATF	chr21:15992575-15992819	GM12878	blood:	n/a	n/a
14	SPI1	chr21:15992432-15992951	GM12891	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:15985514..15988393-chr21:15989367..15994377,5	K562	blood:
2	chr21:15986414..15988202-chr21:15991109..15993483,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000243440	TF binding region
ENSG00000243440	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs11088124	0.94[ASN][1000 genomes]
rs11701328	0.82[ASN][1000 genomes]
rs1292580	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1292581	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1292585	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1292589	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1292594	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1292597	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1977014	0.82[ASN][1000 genomes]
rs1977015	0.82[ASN][1000 genomes]
rs2125751	0.82[ASN][1000 genomes]
rs2822819	0.82[ASN][1000 genomes]
rs2822822	0.81[ASN][1000 genomes]
rs372539	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs376583	0.98[ASN][1000 genomes]
rs383431	0.98[ASN][1000 genomes]
rs402024	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs407446	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4171	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs421894	0.88[ASN][1000 genomes]
rs445139	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs455658	0.95[ASN][1000 genomes]
rs456278	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs456716	0.82[ASN][1000 genomes]
rs457036	0.84[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs458104	0.82[ASN][1000 genomes]
rs458959	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs459315	0.82[ASN][1000 genomes]
rs459837	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs460280	0.82[ASN][1000 genomes]
rs460643	0.82[ASN][1000 genomes]
rs460786	0.98[ASN][1000 genomes]
rs462339	0.82[ASN][1000 genomes]
rs462418	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs464381	0.82[ASN][1000 genomes]
rs464687	0.82[ASN][1000 genomes]
rs465674	0.82[ASN][1000 genomes]
rs466464	0.82[ASN][1000 genomes]
rs467055	0.82[ASN][1000 genomes]
rs7275267	0.82[ASN][1000 genomes]
rs7277131	0.82[ASN][1000 genomes]
rs7280842	0.82[ASN][1000 genomes]
rs8129100	0.86[ASN][1000 genomes]
rs989877	0.82[ASN][1000 genomes]
rs989878	0.82[ASN][1000 genomes]
rs9977944	0.82[ASN][1000 genomes]
rs9980813	0.82[ASN][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	nsv834045	chr21:15900678-16112850	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv834046	chr21:15903792-16077369	Weak transcription Enhancers 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	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:15990000-15993400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr21:15991000-15992800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr21:15992000-15993000	ZNF genes & repeats	GM12878-XiMat	blood
4	chr21:15992200-15992800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
5	chr21:15992200-15994600	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
6	chr21:15992400-15993000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood

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