Variant report

Variant	rs7277732
Chromosome Location	chr21:46353062-46353063
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr21:46352303-46353101	SK-N-SH	brain:	n/a	chr21:46352423-46352437 chr21:46352638-46352651
2	POLR2A	chr21:46350220-46353474	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr21:46352212-46353106	K562	blood:	n/a	n/a
4	CTCF	chr21:46352384-46353068	A549	lung:	n/a	n/a
5	MAZ	chr21:46352509-46353412	GM12878	blood:	n/a	n/a
6	ELK1	chr21:46353039-46353098	GM12878	blood:	n/a	n/a
7	POLR2A	chr21:46348892-46353194	GM12878	blood:	n/a	n/a
8	POLR2A	chr21:46346154-46355833	GM19099	blood:	n/a	n/a
9	CTCF	chr21:46352976-46353097	GM19238	blood:	n/a	n/a
10	CTCF	chr21:46352314-46353142	SK-N-SH	brain:	n/a	n/a
11	ELF1	chr21:46352451-46353224	GM12878	blood:	n/a	chr21:46352679-46352691 chr21:46352685-46352697 chr21:46352623-46352635

No data

(count:12 , 50 per page) page: 1

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	chr21:46233611..46237296-chr21:46352613..46355418,3	K562	blood:
5	chr21:46230539..46232494-chr21:46352107..46354258,2	K562	blood:
6	chr21:46220228..46226309-chr21:46349546..46355767,8	K562	blood:
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	chr21:46352341..46354807-chr21:46362095..46363713,2	K562	blood:
11	chr21:46352849..46354653-chr21:46493857..46495814,2	K562	blood:
12	chr21:46352188..46353827-chr21:46357474..46360338,3	K562	blood:

No data

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

Extended variants
information (count: 47 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10775679	0.88[CEU][hapmap];0.88[EUR][1000 genomes]
rs11088970	0.97[EUR][1000 genomes]
rs11088972	0.92[EUR][1000 genomes]
rs11088973	0.88[EUR][1000 genomes]
rs11701737	0.97[EUR][1000 genomes]
rs12106389	0.88[EUR][1000 genomes]
rs13046102	0.92[EUR][1000 genomes]
rs2294169	0.92[EUR][1000 genomes]
rs3827260	0.88[CEU][hapmap];0.87[GIH][hapmap];0.93[TSI][hapmap]
rs4818745	0.93[EUR][1000 genomes]
rs4818989	0.92[CEU][hapmap];1.00[GIH][hapmap];0.95[TSI][hapmap];0.96[EUR][1000 genomes]
rs4818991	0.97[EUR][1000 genomes]
rs4818992	0.92[CEU][hapmap];1.00[GIH][hapmap];0.95[TSI][hapmap];0.97[EUR][1000 genomes]
rs4818998	0.88[CEU][hapmap];0.88[EUR][1000 genomes]
rs4819000	0.88[CEU][hapmap];0.84[GIH][hapmap];0.93[TSI][hapmap];0.86[EUR][1000 genomes]
rs56122469	0.93[EUR][1000 genomes]
rs56199687	0.92[EUR][1000 genomes]
rs7278544	0.92[CEU][hapmap];0.90[TSI][hapmap];0.94[EUR][1000 genomes]
rs7278847	0.96[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.91[YRI][hapmap];0.90[AFR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7283236	0.96[CEU][hapmap];1.00[GIH][hapmap];0.98[TSI][hapmap];0.98[EUR][1000 genomes]
rs883907	0.88[CEU][hapmap]
rs9974072	0.88[CEU][hapmap];0.88[EUR][1000 genomes]
rs9974152	0.92[CEU][hapmap];1.00[GIH][hapmap];0.95[TSI][hapmap];0.97[EUR][1000 genomes]
rs9974593	0.88[CEU][hapmap];0.88[EUR][1000 genomes]
rs9976402	0.88[CEU][hapmap];0.87[GIH][hapmap];0.88[TSI][hapmap];0.92[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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7277732	C21orf69	cis	multi-tissue	Pritchard

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46350600-46353200	Bivalent Enhancer	Fetal Lung	lung
2	chr21:46350800-46353200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
3	chr21:46350800-46353200	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
4	chr21:46351000-46353200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr21:46351000-46353200	Bivalent Enhancer	Fetal Intestine Large	intestine
6	chr21:46351000-46353200	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
7	chr21:46351000-46353400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr21:46351200-46353200	Enhancers	Lung	lung
9	chr21:46351200-46353200	Enhancers	Pancreas	Pancrea
10	chr21:46351200-46353600	Active TSS	HSMMtube	muscle
11	chr21:46351600-46353200	Enhancers	Fetal Heart	heart
12	chr21:46351800-46353200	Active TSS	GM12878-XiMat	blood
13	chr21:46352000-46353200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
14	chr21:46352000-46353400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr21:46352400-46353200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
16	chr21:46352400-46353200	Bivalent Enhancer	Placenta	Placenta
17	chr21:46352400-46353200	Bivalent Enhancer	Fetal Stomach	stomach
18	chr21:46352400-46353600	Enhancers	Primary T killer memory cells from peripheral blood	blood
19	chr21:46352400-46354800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
20	chr21:46352600-46353200	Enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr21:46352600-46353200	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
22	chr21:46352600-46353400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr21:46352600-46353600	Enhancers	Primary T cells from cord blood	blood
24	chr21:46352600-46353600	Enhancers	Liver	Liver
25	chr21:46352600-46353800	Enhancers	Gastric	stomach
26	chr21:46352600-46354600	Bivalent Enhancer	Fetal Muscle Leg	muscle
27	chr21:46352800-46353200	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr21:46352800-46353200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
29	chr21:46352800-46353200	Flanking Active TSS	Primary B cells from peripheral blood	blood
30	chr21:46352800-46353200	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr21:46352800-46353200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
32	chr21:46352800-46353200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
33	chr21:46352800-46353200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
34	chr21:46352800-46353200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
35	chr21:46352800-46353200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr21:46352800-46353200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr21:46352800-46353200	Bivalent Enhancer	Colonic Mucosa	Colon
38	chr21:46352800-46353200	Flanking Active TSS	Thymus	Thymus
39	chr21:46352800-46353200	Enhancers	HUVEC	blood vessel
40	chr21:46352800-46353400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
41	chr21:46352800-46353400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
42	chr21:46352800-46353400	Enhancers	Primary T helper cells PMA-I stimulated	--
43	chr21:46352800-46353400	Flanking Active TSS	Osteobl	bone
44	chr21:46352800-46353600	Enhancers	Spleen	Spleen
45	chr21:46352800-46353600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
46	chr21:46352800-46358400	Weak transcription	HMEC	breast
47	chr21:46353000-46353200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
48	chr21:46353000-46353200	Flanking Active TSS	Primary B cells from cord blood	blood
49	chr21:46353000-46353200	Enhancers	Primary hematopoietic stem cells	blood
50	chr21:46353000-46353200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood

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