Variant report

Variant	rs13052873
Chromosome Location	chr21:15918943-15918944
allele	A/G
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	SPI1	chr21:15918275-15918950	GM12878	blood:	n/a	chr21:15918700-15918713
2	ATF2	chr21:15918292-15918991	GM12878	blood:	n/a	n/a
3	ARID3A	chr21:15918034-15918949	K562	blood:	n/a	n/a
4	SPI1	chr21:15918384-15918993	HL-60	blood:	n/a	chr21:15918700-15918713
5	NFIC	chr21:15918320-15918952	GM12878	blood:	n/a	n/a
6	GATA2	chr21:15918203-15918944	HUVEC	blood vessel:	n/a	chr21:15918675-15918682 chr21:15918672-15918686 chr21:15918673-15918682
7	TEAD4	chr21:15918151-15919002	K562	blood:	n/a	n/a
8	POLR2A	chr21:15914434-15918944	MCF10A-Er-Src	breast:	n/a	n/a
9	ZNF384	chr21:15918222-15918981	K562	blood:	n/a	chr21:15918934-15918942
10	JUND	chr21:15918342-15918994	K562	blood:	n/a	chr21:15918875-15918884
11	POLR2A	chr21:15916810-15918951	PBDE	blood:	n/a	n/a
12	GATA1	chr21:15917936-15919136	K562	blood:	n/a	chr21:15918675-15918682 chr21:15918673-15918682
13	GATA1	chr21:15918115-15919072	PBDE	blood:	n/a	chr21:15918675-15918682 chr21:15918673-15918682
14	CREB1	chr21:15918398-15918991	GM12878	blood:	n/a	n/a
15	PML	chr21:15918225-15918947	GM12878	blood:	n/a	n/a
16	IRF1	chr21:15917467-15918958	K562	blood:	n/a	chr21:15918865-15918881

No.	Distal block	Cell Line	Cell type
1	chr21:15916860..15919721-chr21:16123639..16127207,4	K562	blood:
2	chr21:15918667..15923010-chr21:15942455..15946099,5	K562	blood:
3	chr21:15916155..15921451-chr21:15952417..15958327,11	K562	blood:

Variant related genes	Relation type
SAMSN1	TF binding region
ENSG00000155307	Chromatin interaction
ENSG00000232884	Chromatin interaction
ENSG00000223662	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs13048538	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13048954	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1983537	0.81[AMR][1000 genomes]
rs2064023	0.81[EUR][1000 genomes]
rs2142312	0.91[EUR][1000 genomes]
rs2822743	0.81[EUR][1000 genomes]
rs2822755	0.90[EUR][1000 genomes]
rs2822756	0.91[EUR][1000 genomes]
rs2822757	0.88[EUR][1000 genomes]
rs2822758	0.81[AMR][1000 genomes]
rs2822759	0.91[EUR][1000 genomes]
rs2822764	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2822766	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28647773	0.84[EUR][1000 genomes]
rs36027342	0.95[EUR][1000 genomes]
rs3810576	0.98[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62227199	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1059591	chr21:15835325-15969195	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1056423	chr21:15838309-15948474	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv544376	chr21:15855470-15948474	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1065823	chr21:15863224-15948474	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1057934	chr21:15863224-15969195	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv1058533	chr21:15896056-15948474	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv544377	chr21:15896056-15948474	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	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
9	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
10	esv2763685	chr21:15904945-15933282	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv587048	chr21:15908642-15932610	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv522627	chr21:15908642-15936503	Enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:15913600-15919200	Active TSS	K562	blood
2	chr21:15914000-15919000	Active TSS	GM12878-XiMat	blood
3	chr21:15916800-15919000	Active TSS	Primary hematopoietic stem cells short term culture	blood
4	chr21:15917400-15919000	Flanking Active TSS	HUVEC	blood vessel
5	chr21:15918600-15919000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
6	chr21:15918600-15919200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
7	chr21:15918600-15919400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr21:15918800-15919000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
9	chr21:15918800-15919000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
10	chr21:15918800-15919000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr21:15918800-15919200	Enhancers	Primary B cells from peripheral blood	blood
12	chr21:15918800-15919200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr21:15918800-15919400	Enhancers	Primary T cells fromperipheralblood	blood
14	chr21:15918800-15919600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr21:15918800-15919600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr21:15918800-15919800	Weak transcription	Primary T cells from cord blood	blood
17	chr21:15918800-15919800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr21:15918800-15920000	Enhancers	Dnd41	blood
19	chr21:15918800-15920200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr21:15918800-15920400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
21	chr21:15918800-15921000	Enhancers	Primary B cells from cord blood	blood
22	chr21:15918800-15922400	Enhancers	Primary hematopoietic stem cells	blood
23	chr21:15918800-15922400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr21:15918800-15922400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr21:15918800-15922400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr21:15918800-15923600	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr21:15918800-15923600	Enhancers	Primary T helper naive cells from peripheral blood	blood
28	chr21:15918800-15923800	Enhancers	Primary T helper cells fromperipheralblood	blood
29	chr21:15918800-15927000	Weak transcription	Fetal Thymus	thymus

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