Variant report

Variant	rs1292585
Chromosome Location	chr21:15989929-15989930
allele	G/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	CEBPB	chr21:15989854-15990377	H1-hESC	embryonic stem cell:	n/a	n/a
2	CEBPB	chr21:15989835-15990320	HepG2	liver:	n/a	n/a
3	CEBPB	chr21:15989733-15990384	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:15988650..15990823-chr21:16044821..16046582,2	K562	blood:
2	chr21:15985514..15988393-chr21:15989367..15994377,5	K562	blood:

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

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs11088124	0.85[ASN][1000 genomes]
rs11701328	0.81[CHB][hapmap];0.83[JPT][hapmap]
rs1292580	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1292581	0.90[CHB][hapmap];0.88[JPT][hapmap];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1292588	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1292589	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1292594	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1292597	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1350630	0.81[CHB][hapmap];0.82[JPT][hapmap]
rs1977015	0.81[CHB][hapmap];0.82[JPT][hapmap]
rs2125751	0.81[CHB][hapmap];0.82[JPT][hapmap]
rs2822822	0.81[CHB][hapmap];0.82[JPT][hapmap]
rs372539	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs376583	0.89[ASN][1000 genomes]
rs383431	0.89[ASN][1000 genomes]
rs395625	1.00[CHB][hapmap];0.88[JPT][hapmap]
rs402024	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs407446	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4171	1.00[CHB][hapmap];0.88[JPT][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs421894	0.81[CHB][hapmap];0.83[JPT][hapmap]
rs445139	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs455658	1.00[CHB][hapmap];0.85[JPT][hapmap];0.86[ASN][1000 genomes]
rs455821	0.81[CHB][hapmap];0.82[JPT][hapmap];0.83[YRI][hapmap]
rs456278	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs457036	0.82[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs458104	0.81[CHB][hapmap];0.82[JPT][hapmap];0.83[YRI][hapmap]
rs458959	1.00[CHB][hapmap];0.82[JPT][hapmap];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs459837	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs460280	0.81[CHB][hapmap];0.81[JPT][hapmap]
rs460643	0.81[JPT][hapmap]
rs460786	0.89[ASN][1000 genomes]
rs462418	1.00[CHB][hapmap];0.88[JPT][hapmap];0.97[YRI][hapmap];0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs466008	0.81[CHB][hapmap];0.83[JPT][hapmap]
rs466909	0.81[CHB][hapmap];0.83[JPT][hapmap];0.81[YRI][hapmap]
rs6516928	0.81[CHB][hapmap]
rs7275267	0.81[CHB][hapmap];0.83[JPT][hapmap]
rs7277131	0.81[CHB][hapmap];0.83[JPT][hapmap]
rs7280842	0.81[CHB][hapmap];0.82[JPT][hapmap]
rs8129100	0.89[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs989877	0.81[CHB][hapmap];0.83[JPT][hapmap];0.90[YRI][hapmap]
rs9977944	0.81[CHB][hapmap];0.86[JPT][hapmap]

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:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:15984800-15991800	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr21:15985000-15991600	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr21:15987200-15991200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr21:15988200-15990200	Weak transcription	Fetal Stomach	stomach
5	chr21:15988800-15991000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr21:15989000-15990000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr21:15989000-15990600	Weak transcription	Fetal Lung	lung
8	chr21:15989000-15991000	Enhancers	Primary B cells from peripheral blood	blood
9	chr21:15989200-15992200	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr21:15989400-15990000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr21:15989400-15990200	Enhancers	H1 Cell Line	embryonic stem cell
12	chr21:15989400-15990400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr21:15989400-15990800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr21:15989400-15991000	Enhancers	H9 Cell Line	embryonic stem cell
15	chr21:15989600-15991000	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr21:15989600-15991200	Enhancers	Dnd41	blood
17	chr21:15989600-15991800	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr21:15989600-15991800	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr21:15989800-15990000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
20	chr21:15989800-15991800	Enhancers	ES-I3 Cell Line	embryonic stem cell

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