Variant report

Variant	rs56384163
Chromosome Location	chr21:46475396-46475397
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:46473847..46475592-chr21:46476375..46478066,2	MCF-7	breast:
2	chr21:46461656..46464324-chr21:46472065..46476080,4	K562	blood:
3	chr21:46472629..46476505-chr21:46493480..46496776,4	K562	blood:
4	chr21:46469388..46471980-chr21:46473841..46475742,2	K562	blood:
5	chr21:46473237..46476363-chr21:46488566..46491608,3	MCF-7	breast:
6	chr21:46432809..46434557-chr21:46475322..46477868,2	MCF-7	breast:
7	chr21:46467385..46475999-chr21:46491097..46497836,11	MCF-7	breast:
8	chr21:46467500..46469724-chr21:46474890..46477329,2	MCF-7	breast:
9	chr21:46451651..46453473-chr21:46473060..46475568,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000197381	Chromatin interaction
ENSG00000268856	Chromatin interaction
ENSG00000235374	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11702677	0.82[EUR][1000 genomes]
rs11909023	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4818758	0.86[ASN][1000 genomes]
rs4819020	0.96[EUR][1000 genomes]
rs4819024	0.97[EUR][1000 genomes]
rs56290629	0.96[EUR][1000 genomes]
rs8131565	0.86[ASN][1000 genomes]
rs8132321	0.91[AFR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	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
3	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
4	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
5	esv3412293	chr21:46474746-46475493	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46471600-46484200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr21:46471800-46475800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr21:46471800-46478000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr21:46471800-46480200	Weak transcription	Lung	lung
5	chr21:46472200-46475800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr21:46473200-46476800	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr21:46473400-46476000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
8	chr21:46474000-46475800	Weak transcription	HSMM	muscle
9	chr21:46474200-46475800	Weak transcription	HSMMtube	muscle
10	chr21:46474200-46476000	Weak transcription	Fetal Lung	lung
11	chr21:46474600-46477400	Enhancers	Fetal Brain Male	brain
12	chr21:46474800-46476000	Weak transcription	Fetal Brain Female	brain
13	chr21:46474800-46476400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr21:46475000-46475400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr21:46475000-46475800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr21:46475200-46475400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr21:46475200-46475400	Bivalent Enhancer	Spleen	Spleen
18	chr21:46475200-46475800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
19	chr21:46475200-46476200	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr21:46475200-46477000	Weak transcription	Right Ventricle	heart
21	chr21:46475200-46477400	Enhancers	Fetal Muscle Leg	muscle
22	chr21:46475200-46477600	Enhancers	Muscle Satellite Cultured Cells	--
23	chr21:46475200-46478200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr21:46475200-46493400	Weak transcription	Right Atrium	heart

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