Variant report

Variant	rs7278594
Chromosome Location	chr21:46352608-46352609
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	chr21:46352448-46352718	HUVEC	blood vessel:	n/a	n/a
2	RAD21	chr21:46352303-46353101	SK-N-SH	brain:	n/a	chr21:46352423-46352437 chr21:46352638-46352651
3	CTCF	chr21:46352491-46352920	K562	blood:	n/a	n/a
4	CHD1	chr21:46352556-46352837	GM12878	blood:	n/a	n/a
5	RAD21	chr21:46352512-46352991	H1-hESC	embryonic stem cell:	n/a	chr21:46352638-46352651
6	ELF1	chr21:46352557-46353041	GM12878	blood:	n/a	chr21:46352679-46352691 chr21:46352685-46352697 chr21:46352623-46352635
7	POLR2A	chr21:46349243-46352888	GM18526	blood:	n/a	n/a
8	CTCF	chr21:46352600-46352750	HL-60	blood:	n/a	n/a
9	CTCF	chr21:46352529-46352832	H1-hESC	embryonic stem cell:	n/a	n/a
10	RAD21	chr21:46352511-46352864	A549	lung:	n/a	chr21:46352638-46352651
11	POLR2A	chr21:46352311-46352786	HUVEC	blood vessel:	n/a	n/a
12	RAD21	chr21:46352509-46352898	HepG2	liver:	n/a	chr21:46352638-46352651
13	POLR2A	chr21:46350220-46353474	MCF10A-Er-Src	breast:	n/a	n/a
14	YY1	chr21:46352369-46352848	GM12892	blood:	n/a	chr21:46352373-46352384 chr21:46352636-46352647 chr21:46352709-46352720 chr21:46352711-46352720
15	YY1	chr21:46352559-46352913	GM12878	blood:	n/a	chr21:46352636-46352647 chr21:46352709-46352720 chr21:46352711-46352720
16	YY1	chr21:46352544-46352911	GM12878	blood:	n/a	chr21:46352636-46352647 chr21:46352709-46352720 chr21:46352711-46352720
17	POLR2A	chr21:46352427-46352927	K562	blood:	n/a	n/a
18	YY1	chr21:46352374-46352914	HepG2	liver:	n/a	chr21:46352636-46352647 chr21:46352709-46352720 chr21:46352711-46352720
19	CTCF	chr21:46352525-46352910	IMR90	lung:	n/a	n/a
20	RAD21	chr21:46352549-46352889	SK-N-SH_RA	brain:	n/a	chr21:46352638-46352651
21	CTCF	chr21:46352605-46352880	GM13976	blood:	n/a	n/a
22	EP300	chr21:46352597-46352674	GM12878	blood:	n/a	n/a
23	MAX	chr21:46352538-46352964	GM12878	blood:	n/a	n/a
24	CTCF	chr21:46352590-46352811	SK-N-SH_RA	brain:	n/a	n/a
25	RCOR1	chr21:46352568-46352736	GM12878	blood:	n/a	n/a
26	MYC	chr21:46352604-46352826	NB4	blood:	n/a	n/a
27	SMC3	chr21:46352447-46353043	SK-N-SH	brain:	n/a	n/a
28	ZBTB7A	chr21:46352471-46352870	HepG2	liver:	n/a	n/a
29	YY1	chr21:46352520-46352771	K562	blood:	n/a	chr21:46352636-46352647 chr21:46352709-46352720 chr21:46352711-46352720
30	SMC3	chr21:46352568-46352884	K562	blood:	n/a	n/a
31	HMGN3	chr21:46352480-46352969	K562	blood:	n/a	n/a
32	POLR2A	chr21:46352212-46353106	K562	blood:	n/a	n/a
33	CTCF	chr21:46352577-46352903	Spleen_OC	spleen:	n/a	n/a
34	ELF1	chr21:46352590-46352875	K562	blood:	n/a	chr21:46352679-46352691 chr21:46352685-46352697 chr21:46352623-46352635
35	SUZ12	chr21:46350785-46352900	NT2-D1	testis:	n/a	n/a
36	RAD21	chr21:46352554-46352852	A549	lung:	n/a	chr21:46352638-46352651
37	UBTF	chr21:46352157-46352890	K562	blood:	n/a	n/a
38	SMC3	chr21:46352551-46352921	GM12878	blood:	n/a	n/a
39	CTCF	chr21:46352541-46352899	H1-hESC	embryonic stem cell:	n/a	n/a
40	RUNX3	chr21:46352575-46352900	GM12878	blood:	n/a	n/a
41	RUNX3	chr21:46352528-46352886	GM12878	blood:	n/a	n/a
42	POLR2A	chr21:46350524-46352839	MCF10A-Er-Src	breast:	n/a	n/a
43	CTCF	chr21:46352522-46352955	GM12878	blood:	n/a	n/a
44	RAD21	chr21:46352562-46352861	HepG2	liver:	n/a	chr21:46352638-46352651
45	RAD21	chr21:46352497-46352863	ECC-1	luminal epithelium:	n/a	chr21:46352638-46352651
46	RCOR1	chr21:46352570-46352816	K562	blood:	n/a	n/a
47	ZNF143	chr21:46352506-46352933	GM12878	blood:	n/a	n/a
48	CTCF	chr21:46352534-46352801	A549	lung:	n/a	n/a
49	CTCF	chr21:46352384-46353068	A549	lung:	n/a	n/a
50	RAD21	chr21:46352513-46352906	IMR90	lung:	n/a	chr21:46352638-46352651

No.	Distal block	Cell Line	Cell type
1	chr21:46348854..46378176-chr21:46489799..46500436,75	K562	blood:
2	chr21:46221821..46223623-chr21:46352044..46354784,3	MCF-7	breast:
3	chr20:49348358..49350092-chr21:46352024..46353576,2	MCF-7	breast:
4	chr21:46230539..46232494-chr21:46352107..46354258,2	K562	blood:
5	chr21:46220228..46226309-chr21:46349546..46355767,8	K562	blood:
6	chr21:46345821..46352717-chr21:46492682..46495835,7	MCF-7	breast:
7	chr21:46340594..46342742-chr21:46352387..46353896,2	K562	blood:
8	chr21:46234565..46238085-chr21:46349825..46353215,3	MCF-7	breast:
9	chr21:46288744..46296879-chr21:46346201..46354260,26	MCF-7	breast:
10	chr21:46220263..46223201-chr21:46349640..46352735,4	K562	blood:
11	chr21:46352341..46354807-chr21:46362095..46363713,2	K562	blood:
12	chr21:46352188..46353827-chr21:46357474..46360338,3	K562	blood:

Variant related genes	Relation type
ITGB2	TF binding region
ENSG00000272825	TF binding region
ENSG00000273027	TF binding region
ENSG00000184900	Chromatin interaction
ENSG00000183255	Chromatin interaction
ENSG00000227039	Chromatin interaction
ENSG00000236519	Chromatin interaction
ENSG00000160256	Chromatin interaction
ENSG00000197381	Chromatin interaction
ENSG00000268856	Chromatin interaction
ENSG00000235374	Chromatin interaction
ENSG00000184787	Chromatin interaction
ENSG00000160255	Chromatin interaction
ENSG00000183250	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1883072	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2142494	0.87[EUR][1000 genomes]
rs4818995	0.83[EUR][1000 genomes]
rs7280456	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs8129394	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9637166	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9974172	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 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	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
3	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
4	nsv913970	chr21:46305175-46487831	Bivalent Enhancer Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv933240	chr21:46305956-46371518	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv913974	chr21:46306161-46430792	Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
7	nsv913975	chr21:46306161-46459432	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
8	nsv913976	chr21:46306161-46487831	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
9	nsv834110	chr21:46316183-46505151	Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
10	nsv1064518	chr21:46317690-46413159	Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
11	nsv913977	chr21:46335761-46454391	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
12	nsv913978	chr21:46335761-46466674	Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
13	nsv913979	chr21:46335761-46472929	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
14	nsv913980	chr21:46337565-46454391	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
15	nsv913981	chr21:46344426-46408790	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
16	nsv913982	chr21:46344426-46430792	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
17	nsv913984	chr21:46344426-46435610	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
18	nsv913983	chr21:46344426-46440385	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
19	nsv913985	chr21:46344426-46448142	Weak transcription Genic enhancers Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
20	nsv913986	chr21:46344426-46466674	Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
21	nsv913987	chr21:46344426-46472929	Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
22	esv1808790	chr21:46349496-46355712	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46350400-46352800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
2	chr21:46350600-46353000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr21:46350600-46353200	Bivalent Enhancer	Fetal Lung	lung
4	chr21:46350800-46353000	Bivalent Enhancer	Fetal Brain Male	brain
5	chr21:46350800-46353200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
6	chr21:46350800-46353200	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
7	chr21:46351000-46353000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr21:46351000-46353000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr21:46351000-46353200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr21:46351000-46353200	Bivalent Enhancer	Fetal Intestine Large	intestine
11	chr21:46351000-46353200	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
12	chr21:46351000-46353400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr21:46351200-46352800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
14	chr21:46351200-46352800	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr21:46351200-46353000	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr21:46351200-46353000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
17	chr21:46351200-46353000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
18	chr21:46351200-46353000	Flanking Active TSS	Primary hematopoietic stem cells	blood
19	chr21:46351200-46353200	Enhancers	Lung	lung
20	chr21:46351200-46353200	Enhancers	Pancreas	Pancrea
21	chr21:46351200-46353600	Active TSS	HSMMtube	muscle
22	chr21:46351400-46352800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
23	chr21:46351400-46352800	Bivalent/Poised TSS	Small Intestine	intestine
24	chr21:46351400-46353000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
25	chr21:46351400-46353000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
26	chr21:46351600-46352800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr21:46351600-46352800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
28	chr21:46351600-46353200	Enhancers	Fetal Heart	heart
29	chr21:46351800-46352800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
30	chr21:46351800-46352800	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr21:46351800-46352800	Active TSS	Primary B cells from peripheral blood	blood
32	chr21:46351800-46352800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
33	chr21:46351800-46352800	Active TSS	Primary T helper cells PMA-I stimulated	--
34	chr21:46351800-46352800	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
35	chr21:46351800-46352800	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
36	chr21:46351800-46352800	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
37	chr21:46351800-46353000	Flanking Bivalent TSS/Enh	Dnd41	blood
38	chr21:46351800-46353200	Active TSS	GM12878-XiMat	blood
39	chr21:46352000-46352800	Active TSS	Primary monocytes fromperipheralblood	blood
40	chr21:46352000-46352800	Active TSS	Primary neutrophils fromperipheralblood	blood
41	chr21:46352000-46352800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr21:46352000-46352800	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
43	chr21:46352000-46352800	Active TSS	HepG2	liver
44	chr21:46352000-46352800	Enhancers	HMEC	breast
45	chr21:46352000-46352800	Active TSS	Osteobl	bone
46	chr21:46352000-46353000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr21:46352000-46353000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr21:46352000-46353000	Bivalent/Poised TSS	Psoas Muscle	Psoas
49	chr21:46352000-46353000	Active TSS	Right Atrium	heart
50	chr21:46352000-46353200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle

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