Variant report

Variant	rs8132385
Chromosome Location	chr21:15988988-15988989
allele	A/C
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	SP1	chr21:15988738-15989250	H1-hESC	embryonic stem cell:	n/a	n/a
2	FOS	chr21:15988551-15989070	MCF10A-Er-Src	breast:	n/a	n/a
3	PRDM1	chr21:15988703-15989045	Hela-S3	cervix:	n/a	chr21:15988781-15988795
4	JUND	chr21:15988700-15989453	H1-hESC	embryonic stem cell:	n/a	n/a
5	FOS	chr21:15988648-15989012	MCF10A-Er-Src	breast:	n/a	n/a
6	E2F4	chr21:15988598-15989057	MCF10A-Er-Src	breast:	n/a	n/a
7	FOS	chr21:15988669-15989028	MCF10A-Er-Src	breast:	n/a	n/a
8	EP300	chr21:15988686-15988995	Hela-S3	cervix:	n/a	n/a
9	NANOG	chr21:15988862-15989233	H1-hESC	embryonic stem cell:	n/a	n/a
10	STAT3	chr21:15988717-15989006	MCF10A-Er-Src	breast:	n/a	chr21:15988782-15988793
11	CEBPB	chr21:15988698-15989098	H1-hESC	embryonic stem cell:	n/a	n/a
12	STAT3	chr21:15988702-15989025	MCF10A-Er-Src	breast:	n/a	chr21:15988782-15988793
13	NANOG	chr21:15988840-15989209	H1-hESC	embryonic stem cell:	n/a	n/a
14	FOS	chr21:15988574-15989055	MCF10A-Er-Src	breast:	n/a	n/a
15	SP1	chr21:15988786-15989251	H1-hESC	embryonic stem cell:	n/a	n/a
16	POU5F1	chr21:15988796-15989177	H1-hESC	embryonic stem cell:	n/a	chr21:15989083-15989097 chr21:15989083-15989091
17	TCF7L2	chr21:15988696-15989106	Hela-S3	cervix:	n/a	chr21:15989027-15989036
18	STAT3	chr21:15988725-15989024	MCF10A-Er-Src	breast:	n/a	chr21:15988782-15988793
19	EP300	chr21:15988790-15989309	H1-hESC	embryonic stem cell:	n/a	chr21:15989178-15989187
20	CEBPB	chr21:15988631-15989009	Hela-S3	cervix:	n/a	n/a

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

Variant related genes	Relation type
ENSG00000243440	TF binding region

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs17003730	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17003731	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs17003771	1.00[AMR][1000 genomes]
rs17003785	1.00[YRI][hapmap]
rs17003818	1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17003833	1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17003885	1.00[YRI][hapmap]
rs17003916	0.82[YRI][hapmap]
rs17003939	1.00[YRI][hapmap]
rs55940266	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55997140	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58508672	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73891894	1.00[AMR][1000 genomes]
rs73894110	1.00[AMR][1000 genomes]
rs73894246	1.00[AMR][1000 genomes]
rs8134452	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][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:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:15981000-15989400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr21:15983800-15989800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr21:15984800-15991800	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr21:15985000-15991600	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr21:15985600-15989400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr21:15987200-15991200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr21:15988000-15989200	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr21:15988200-15989400	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr21:15988200-15989400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr21:15988200-15989400	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr21:15988200-15990200	Weak transcription	Fetal Stomach	stomach
12	chr21:15988400-15989000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
13	chr21:15988400-15989000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr21:15988400-15989200	Enhancers	Hela-S3	cervix
15	chr21:15988400-15989600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
16	chr21:15988600-15989200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr21:15988600-15989600	Enhancers	K562	blood
18	chr21:15988800-15989000	Active TSS	iPS-20b Cell Line	embryonic stem cell
19	chr21:15988800-15989000	Enhancers	Fetal Lung	lung
20	chr21:15988800-15991000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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