Variant report

Variant	rs2822764
Chromosome Location	chr21:15920807-15920808
allele	C/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	RELA	chr21:15920150-15920872	GM18505	blood:	n/a	n/a
2	BCL3	chr21:15920227-15920814	GM12878	blood:	n/a	n/a
3	BATF	chr21:15920482-15920817	GM12878	blood:	n/a	chr21:15920670-15920678
4	FOS	chr21:15920432-15920812	MCF10A-Er-Src	breast:	n/a	chr21:15920606-15920617
5	STAT3	chr21:15920341-15920822	MCF10A-Er-Src	breast:	n/a	chr21:15920412-15920423 chr21:15920607-15920616 chr21:15920608-15920617
6	STAT3	chr21:15920590-15922653	MCF10A-Er-Src	breast:	n/a	chr21:15922627-15922639 chr21:15922216-15922236 chr21:15921421-15921432 chr21:15920607-15920616 chr21:15920608-15920617
7	JUND	chr21:15920420-15920820	Hela-S3	cervix:	n/a	n/a
8	BHLHE40	chr21:15920235-15920857	GM12878	blood:	n/a	n/a
9	RELA	chr21:15920083-15920842	GM12878	blood:	n/a	n/a
10	FOS	chr21:15920227-15922024	MCF10A-Er-Src	breast:	n/a	chr21:15920606-15920617 chr21:15921529-15921538
11	FOXM1	chr21:15920125-15920821	GM12878	blood:	n/a	n/a
12	POLR2A	chr21:15920337-15922766	MCF10A-Er-Src	breast:	n/a	n/a
13	RUNX3	chr21:15920076-15920847	GM12878	blood:	n/a	n/a
14	NFIC	chr21:15920206-15920975	GM12878	blood:	n/a	n/a
15	POLR2A	chr21:15920314-15923142	MCF10A-Er-Src	breast:	n/a	n/a
16	NFIC	chr21:15920031-15920953	GM12878	blood:	n/a	n/a
17	EP300	chr21:15920505-15921612	Hela-S3	cervix:	n/a	chr21:15920883-15920893 chr21:15921356-15921363
18	CUX1	chr21:15920214-15920982	GM12878	blood:	n/a	n/a
19	FOS	chr21:15920424-15921003	HUVEC	blood vessel:	n/a	chr21:15920606-15920617
20	KAP1	chr21:15920675-15921161	K562	blood:	n/a	n/a
21	ATF2	chr21:15920084-15920815	GM12878	blood:	n/a	n/a
22	MYC	chr21:15920686-15921378	K562	blood:	n/a	n/a
23	FOS	chr21:15920370-15921645	MCF10A-Er-Src	breast:	n/a	chr21:15920606-15920617 chr21:15921529-15921538
24	STAT3	chr21:15920512-15921690	MCF10A-Er-Src	breast:	n/a	chr21:15921421-15921432 chr21:15920607-15920616 chr21:15920608-15920617

No.	Distal block	Cell Line	Cell type
1	chr21:15919781..15923280-chr21:15954504..15956620,3	K562	blood:
2	chr21:15919672..15922192-chr21:15926866..15928968,2	K562	blood:
3	chr21:15920124..15923209-chr21:15941679..15944846,3	K562	blood:
4	chr21:15919906..15922793-chr21:15932302..15934213,2	K562	blood:
5	chr21:15919365..15921468-chr21:16048127..16050377,2	K562	blood:
6	chr21:15920671..15923360-chr21:15929340..15932218,2	K562	blood:
7	chr21:15918667..15923010-chr21:15942455..15946099,5	K562	blood:
8	chr21:15916155..15921451-chr21:15952417..15958327,11	K562	blood:
9	chr21:15915978..15918625-chr21:15919465..15922478,3	K562	blood:

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

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs13048538	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13048954	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13052873	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1556281	0.82[CHB][hapmap];0.80[JPT][hapmap]
rs1983537	0.91[CHB][hapmap];0.82[JPT][hapmap]
rs2064023	0.80[EUR][1000 genomes]
rs2142312	0.89[CEU][hapmap];0.91[EUR][1000 genomes]
rs2142314	0.86[CHB][hapmap];0.85[JPT][hapmap]
rs2822743	0.80[EUR][1000 genomes]
rs2822755	0.84[CEU][hapmap];0.90[EUR][1000 genomes]
rs2822756	0.89[CEU][hapmap];0.91[EUR][1000 genomes]
rs2822757	0.89[EUR][1000 genomes]
rs2822758	0.84[CEU][hapmap]
rs2822759	0.90[CEU][hapmap];0.91[EUR][1000 genomes]
rs2822766	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2822768	0.86[CHB][hapmap];0.85[JPT][hapmap]
rs28647773	0.83[EUR][1000 genomes]
rs36027342	0.94[EUR][1000 genomes]
rs3810576	0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62227199	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7275386	0.86[CHB][hapmap];0.85[JPT][hapmap]
rs760347	0.86[CHB][hapmap];0.85[JPT][hapmap]

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:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:15918800-15921000	Enhancers	Primary B cells from cord blood	blood
2	chr21:15918800-15922400	Enhancers	Primary hematopoietic stem cells	blood
3	chr21:15918800-15922400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr21:15918800-15922400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr21:15918800-15922400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr21:15918800-15923600	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr21:15918800-15923600	Enhancers	Primary T helper naive cells from peripheral blood	blood
8	chr21:15918800-15923800	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr21:15918800-15927000	Weak transcription	Fetal Thymus	thymus
10	chr21:15919000-15921000	Enhancers	Monocytes-CD14+_RO01746	blood
11	chr21:15919000-15923600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
12	chr21:15919000-15923800	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr21:15919200-15921600	Enhancers	Primary neutrophils fromperipheralblood	blood
14	chr21:15919200-15922200	Weak transcription	Primary B cells from peripheral blood	blood
15	chr21:15919400-15921200	Flanking Active TSS	GM12878-XiMat	blood
16	chr21:15919400-15921600	Enhancers	Primary T killer memory cells from peripheral blood	blood
17	chr21:15919400-15922400	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr21:15919600-15921000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr21:15919600-15923600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr21:15920000-15923200	Enhancers	HUVEC	blood vessel
21	chr21:15920200-15921400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
22	chr21:15920200-15921400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
23	chr21:15920200-15921600	Enhancers	Muscle Satellite Cultured Cells	--
24	chr21:15920200-15923000	Enhancers	Hela-S3	cervix
25	chr21:15920400-15921800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr21:15920400-15922200	Enhancers	Primary T cells from cord blood	blood
27	chr21:15920600-15921000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
28	chr21:15920600-15921800	Weak transcription	Dnd41	blood
29	chr21:15920800-15921000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr21:15920800-15921000	Enhancers	K562	blood
31	chr21:15920800-15922400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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