Variant report

Variant	rs478484
Chromosome Location	chr21:44766883-44766884
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

No data

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

No.	Distal block	Cell Line	Cell type
1	chr21:44760842..44763171-chr21:44763697..44767030,3	K562	blood:
2	chr21:44765975..44770673-chr21:44844225..44848296,6	MCF-7	breast:
3	chr21:44766381..44769157-chr21:44770882..44772794,2	K562	blood:
4	chr21:44763173..44768518-chr21:44813268..44818095,5	MCF-7	breast:
5	chr21:44757282..44768663-chr21:44841832..44851703,32	MCF-7	breast:
6	chr21:44597167..44598866-chr21:44766112..44768773,2	MCF-7	breast:
7	chr21:44762520..44766319-chr21:44766634..44772911,10	MCF-7	breast:
8	chr21:44766255..44769691-chr21:44923906..44926026,3	MCF-7	breast:
9	chr21:44765255..44767704-chr21:44840490..44843431,2	MCF-7	breast:
10	chr21:44752754..44755625-chr21:44766039..44768517,2	MCF-7	breast:
11	chr21:44746633..44749301-chr21:44766480..44769063,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000142178	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs555922	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs643608	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1067412	chr21:44526656-44772130	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
2	nsv1056684	chr21:44539714-44886119	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
3	nsv913831	chr21:44563995-44931821	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
4	nsv913832	chr21:44579105-44768562	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	esv1817359	chr21:44699077-44821595	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
6	nsv1059062	chr21:44711272-44779969	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv1057726	chr21:44711850-44957303	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
8	nsv544466	chr21:44711850-44957303	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
9	nsv1058308	chr21:44722915-44825108	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
10	nsv1063186	chr21:44729904-44828476	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
11	nsv544467	chr21:44729904-44828476	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
12	nsv913837	chr21:44731138-44853859	Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
13	nsv913838	chr21:44740134-44931821	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
14	nsv913839	chr21:44750200-44931821	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
15	nsv913840	chr21:44750643-44823479	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
16	nsv913841	chr21:44761874-44853859	Bivalent/Poised TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
17	nsv913842	chr21:44764895-44792929	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:44754800-44781200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr21:44757600-44770000	Enhancers	Fetal Muscle Leg	muscle
3	chr21:44759600-44772000	Weak transcription	Primary B cells from peripheral blood	blood
4	chr21:44760600-44768000	Weak transcription	Right Atrium	heart
5	chr21:44761400-44769600	Enhancers	Fetal Lung	lung
6	chr21:44761800-44768800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr21:44762600-44769000	Weak transcription	HSMM	muscle
8	chr21:44762800-44769600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr21:44763200-44768200	Weak transcription	Fetal Heart	heart
10	chr21:44763200-44769600	Enhancers	Fetal Thymus	thymus
11	chr21:44763200-44769800	Enhancers	Spleen	Spleen
12	chr21:44763600-44768200	Enhancers	HepG2	liver
13	chr21:44763600-44780800	Weak transcription	Duodenum Mucosa	Duodenum
14	chr21:44763800-44767000	Enhancers	Lung	lung
15	chr21:44764000-44767800	Bivalent Enhancer	Placenta	Placenta
16	chr21:44764400-44769000	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr21:44764600-44768800	Weak transcription	Fetal Brain Female	brain
18	chr21:44764800-44770200	Weak transcription	Fetal Brain Male	brain
19	chr21:44765000-44768200	Weak transcription	Colonic Mucosa	Colon
20	chr21:44765200-44767000	Enhancers	Primary hematopoietic stem cells	blood
21	chr21:44765400-44779000	Weak transcription	Gastric	stomach
22	chr21:44765600-44767000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr21:44765600-44767800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr21:44765800-44767800	Weak transcription	A549	lung
25	chr21:44765800-44768400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr21:44766000-44769800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr21:44766400-44767000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr21:44766400-44768000	Weak transcription	Fetal Intestine Small	intestine
29	chr21:44766400-44768800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr21:44766400-44768800	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr21:44766400-44769800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
32	chr21:44766400-44773800	Weak transcription	Thymus	Thymus
33	chr21:44766600-44767200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr21:44766600-44767600	Enhancers	Pancreas	Pancrea
35	chr21:44766600-44768000	Weak transcription	HUVEC	blood vessel
36	chr21:44766600-44768200	Weak transcription	Esophagus	oesophagus
37	chr21:44766600-44768400	Weak transcription	NHEK	skin
38	chr21:44766600-44768600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr21:44766600-44768600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr21:44766600-44768800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr21:44766600-44773200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr21:44766800-44767800	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr21:44766800-44768000	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr21:44766800-44768600	Weak transcription	Brain Germinal Matrix	brain
45	chr21:44766800-44768600	Weak transcription	HMEC	breast
46	chr21:44766800-44768800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr21:44766800-44769200	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr21:44766800-44769200	Weak transcription	Right Ventricle	heart
49	chr21:44766800-44774000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr21:44766800-44775400	Weak transcription	Hela-S3	cervix

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