Variant report

Variant	rs57064200
Chromosome Location	chr21:46286788-46286789
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	POLR2A	chr21:46286703-46287026	HUVEC	blood vessel:	n/a	n/a
2	MAX	chr21:46286747-46286993	NB4	blood:	n/a	n/a
3	MAFK	chr21:46286691-46287075	H1-hESC	embryonic stem cell:	n/a	chr21:46286867-46286882
4	FOS	chr21:46286753-46286893	MCF10A-Er-Src	breast:	n/a	chr21:46286866-46286877
5	FOXA2	chr21:46286727-46287078	A549	lung:	n/a	n/a
6	NFATC1	chr21:46286507-46287317	GM12878	blood:	n/a	n/a
7	TBL1XR1	chr21:46286767-46286879	K562	blood:	n/a	n/a
8	POLR2A	chr21:46286491-46287132	HUVEC	blood vessel:	n/a	n/a
9	POLR2A	chr21:46285303-46286949	HepG2	liver:	n/a	n/a
10	FOXA2	chr21:46286566-46287080	A549	lung:	n/a	n/a
11	KAP1	chr21:46286510-46287125	HEK293	kidney:	n/a	n/a
12	MAFK	chr21:46286684-46287057	HepG2	liver:	n/a	chr21:46286867-46286882
13	MAFF	chr21:46286674-46287090	K562	blood:	n/a	chr21:46286866-46286884
14	POLR2A	chr21:46285776-46287284	HepG2	liver:	n/a	n/a
15	ZNF143	chr21:46286713-46287003	K562	blood:	n/a	n/a
16	BACH1	chr21:46286653-46287066	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr21:46286668-46287279	HepG2	liver:	n/a	n/a
18	CUX1	chr21:46286742-46286996	K562	blood:	n/a	n/a
19	MYC	chr21:46286614-46286861	HUVEC	blood vessel:	n/a	n/a
20	FOXA1	chr21:46286673-46286998	HepG2	liver:	n/a	n/a
21	MAFK	chr21:46286682-46287090	K562	blood:	n/a	chr21:46286867-46286882
22	FOXA2	chr21:46286665-46286917	HepG2	liver:	n/a	n/a
23	FOS	chr21:46286680-46287068	HUVEC	blood vessel:	n/a	chr21:46286866-46286877
24	FOXA1	chr21:46286641-46286938	HepG2	liver:	n/a	n/a
25	JUND	chr21:46286693-46286957	HepG2	liver:	n/a	chr21:46286866-46286877
26	CEBPB	chr21:46286742-46286860	IMR90	lung:	n/a	n/a
27	MAFK	chr21:46286681-46287044	IMR90	lung:	n/a	chr21:46286867-46286882
28	JUND	chr21:46286671-46286989	K562	blood:	n/a	chr21:46286866-46286877
29	POLR2A	chr21:46286779-46287066	K562	blood:	n/a	n/a
30	FOXA1	chr21:46286528-46287047	HepG2	liver:	n/a	n/a
31	MAFK	chr21:46286694-46287056	HepG2	liver:	n/a	chr21:46286867-46286882
32	MAFF	chr21:46286695-46287055	HepG2	liver:	n/a	chr21:46286866-46286884
33	BACH1	chr21:46286704-46287019	K562	blood:	n/a	n/a
34	FOXA1	chr21:46286687-46287049	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr21:46249596..46252365-chr21:46286693..46288889,2	K562	blood:
2	chr21:46272684..46279612-chr21:46286573..46290125,9	K562	blood:
3	chr21:46234824..46239565-chr21:46284858..46289652,5	K562	blood:
4	chr21:46279667..46283456-chr21:46286447..46289465,4	K562	blood:
5	chr21:46236678..46239215-chr21:46284689..46286960,3	MCF-7	breast:
6	chr21:46286677..46288930-chr6:170126669..170128404,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ITGB2-1	chr21:46286389-46288992	ENSG00000250713

Variant related genes	Relation type
PTTG1IP	TF binding region
ENSG00000184900	Chromatin interaction
ENSG00000183255	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17004710	0.92[EUR][1000 genomes]
rs2282111	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2282116	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs33973568	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs34037159	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34449239	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs34552233	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs34897870	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs35101060	0.82[EUR][1000 genomes]
rs3753015	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4818738	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4818981	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4818982	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4818983	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs55831723	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs66506615	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs873317	0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916258	chr21:45995986-46624705	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
2	nsv1062245	chr21:46096964-46332587	Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv544478	chr21:46096964-46332587	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
4	nsv913964	chr21:46223847-46298869	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv913962	chr21:46223847-46321172	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
6	nsv913965	chr21:46223847-46321172	Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
7	nsv1058550	chr21:46227163-46317934	Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
8	nsv913968	chr21:46249752-46301008	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
9	nsv1060233	chr21:46254075-46323401	Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
10	nsv1056513	chr21:46254075-46442759	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
11	nsv913969	chr21:46279505-46472929	Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
12	nsv544479	chr21:46280467-46323401	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
13	nsv470907	chr21:46283669-46306161	Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
14	nsv459299	chr21:46283669-46311264	Strong transcription Active TSS Genic enhancers Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
15	nsv459300	chr21:46283669-46311264	Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
16	nsv587814	chr21:46283669-46311264	Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46267600-46287000	Strong transcription	Brain Germinal Matrix	brain
2	chr21:46271400-46286800	Weak transcription	Psoas Muscle	Psoas
3	chr21:46275600-46290600	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr21:46278400-46289600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr21:46279400-46288400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr21:46279600-46288800	Weak transcription	Fetal Kidney	kidney
7	chr21:46279800-46287600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr21:46283400-46288800	Strong transcription	NHEK	skin
9	chr21:46284000-46288400	Genic enhancers	Spleen	Spleen
10	chr21:46284000-46289000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr21:46284600-46287600	Genic enhancers	Fetal Intestine Large	intestine
12	chr21:46284600-46287800	Genic enhancers	Gastric	stomach
13	chr21:46284800-46287200	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr21:46284800-46287400	Genic enhancers	Placenta	Placenta
15	chr21:46284800-46288600	Genic enhancers	Primary B cells from peripheral blood	blood
16	chr21:46285000-46287200	Genic enhancers	Rectal Mucosa Donor 29	rectum
17	chr21:46285000-46288400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr21:46285000-46291600	Enhancers	Primary hematopoietic stem cells	blood
19	chr21:46285000-46291800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr21:46285200-46286800	Genic enhancers	Muscle Satellite Cultured Cells	--
21	chr21:46285200-46287000	Genic enhancers	Esophagus	oesophagus
22	chr21:46285200-46287400	Genic enhancers	Pancreas	Pancrea
23	chr21:46285200-46287800	Genic enhancers	Fetal Intestine Small	intestine
24	chr21:46285200-46287800	Genic enhancers	Stomach Smooth Muscle	stomach
25	chr21:46285200-46287800	Genic enhancers	Dnd41	blood
26	chr21:46285200-46287800	Genic enhancers	NHLF	lung
27	chr21:46285200-46288600	Genic enhancers	Right Ventricle	heart
28	chr21:46285200-46288800	Genic enhancers	Osteobl	bone
29	chr21:46285200-46289000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr21:46285200-46289200	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr21:46285200-46290000	Genic enhancers	Fetal Thymus	thymus
32	chr21:46285200-46290800	Enhancers	Right Atrium	heart
33	chr21:46285200-46291600	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr21:46285400-46286800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
35	chr21:46285400-46287400	Genic enhancers	Sigmoid Colon	Sigmoid Colon
36	chr21:46285400-46287400	Enhancers	NHDF-Ad	bronchial
37	chr21:46285400-46287600	Genic enhancers	Rectal Smooth Muscle	rectum
38	chr21:46285400-46287600	Genic enhancers	Thymus	Thymus
39	chr21:46285400-46287600	Genic enhancers	HMEC	breast
40	chr21:46285400-46288600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
41	chr21:46285400-46289000	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr21:46285400-46291600	Enhancers	Left Ventricle	heart
43	chr21:46285600-46286800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr21:46285600-46286800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr21:46285600-46286800	Enhancers	Lung	lung
46	chr21:46285600-46286800	Genic enhancers	Hela-S3	cervix
47	chr21:46285600-46286800	Enhancers	HUVEC	blood vessel
48	chr21:46285600-46287000	Enhancers	Adipose Nuclei	Adipose
49	chr21:46285600-46287200	Enhancers	Duodenum Smooth Muscle	Duodenum
50	chr21:46285600-46288600	Enhancers	Primary T killer memory cells from peripheral blood	blood

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