Variant report

Variant	rs57646949
Chromosome Location	chr21:46474399-46474400
allele	C/T
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:46473847..46475592-chr21:46476375..46478066,2	MCF-7	breast:
2	chr21:46411537..46413701-chr21:46472011..46474537,2	MCF-7	breast:
3	chr21:46461656..46464324-chr21:46472065..46476080,4	K562	blood:
4	chr21:46472629..46476505-chr21:46493480..46496776,4	K562	blood:
5	chr21:46473225..46475340-chr21:46488258..46490065,2	K562	blood:
6	chr21:46471253..46475067-chr21:46492692..46495529,4	MCF-7	breast:
7	chr21:46469388..46471980-chr21:46473841..46475742,2	K562	blood:
8	chr21:46364819..46367471-chr21:46472297..46474771,2	K562	blood:
9	chr21:46473237..46476363-chr21:46488566..46491608,3	MCF-7	breast:
10	chr21:46474279..46475026-chr21:46493041..46493703,3	MCF-7	breast:
11	chr21:46474348..46475026-chr21:46493041..46493788,3	MCF-7	breast:
12	chr21:46467385..46475999-chr21:46491097..46497836,11	MCF-7	breast:
13	chr21:46451651..46453473-chr21:46473060..46475568,2	MCF-7	breast:

No data

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

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11909725	1.00[ASN][1000 genomes]
rs35448631	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55777743	0.95[AFR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57712590	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58402288	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59080254	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73382618	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46455200-46474800	Weak transcription	Right Atrium	heart
2	chr21:46465600-46474800	Weak transcription	Aorta	Aorta
3	chr21:46468800-46474800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr21:46469000-46474600	Enhancers	Fetal Muscle Leg	muscle
5	chr21:46470600-46474800	Weak transcription	Right Ventricle	heart
6	chr21:46471600-46484200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr21:46471800-46474800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr21:46471800-46474800	Weak transcription	Gastric	stomach
9	chr21:46471800-46474800	Weak transcription	Pancreas	Pancrea
10	chr21:46471800-46474800	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr21:46471800-46475800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr21:46471800-46478000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr21:46471800-46480200	Weak transcription	Lung	lung
14	chr21:46472200-46475800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr21:46473200-46474800	Enhancers	Stomach Mucosa	stomach
16	chr21:46473200-46476800	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr21:46473400-46476000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
18	chr21:46473600-46474400	Bivalent Enhancer	HepG2	liver
19	chr21:46473800-46475200	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr21:46473800-46475200	Bivalent Enhancer	Placenta	Placenta
21	chr21:46474000-46474600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr21:46474000-46474800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr21:46474000-46475800	Weak transcription	HSMM	muscle
24	chr21:46474200-46474400	Enhancers	Fetal Intestine Small	intestine
25	chr21:46474200-46474600	Enhancers	Hela-S3	cervix
26	chr21:46474200-46474800	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr21:46474200-46475000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
28	chr21:46474200-46475800	Weak transcription	HSMMtube	muscle
29	chr21:46474200-46476000	Weak transcription	Fetal Lung	lung

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