Variant report

Variant	rs8129146
Chromosome Location	chr21:45408149-45408150
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: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	chr21:45407518..45410638-chr21:45429603..45433630,5	K562	blood:
2	chr21:45395932..45398361-chr21:45406476..45408690,2	K562	blood:
3	chr21:45407342..45409027-chr21:45430207..45431871,2	MCF-7	breast:
4	chr21:45171543..45174719-chr21:45405965..45408527,3	K562	blood:
5	chr21:45405585..45409105-chr21:45429357..45434813,4	K562	blood:
6	chr21:45406297..45409169-chr21:45425918..45428099,2	K562	blood:
7	chr21:45403511..45408258-chr21:45429516..45434550,7	MCF-7	breast:
8	chr21:45406262..45409229-chr21:45418247..45420047,2	K562	blood:
9	chr21:45393130..45395112-chr21:45407277..45409504,2	K562	blood:
10	chr21:45395932..45398037-chr21:45406476..45409180,2	K562	blood:
11	chr21:45391777..45394630-chr21:45405827..45408777,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000160209	Chromatin interaction
ENSG00000160218	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11910604	1.00[CHB][hapmap]
rs2838459	0.91[ASN][1000 genomes]
rs2838463	0.96[ASN][1000 genomes]
rs2838470	1.00[JPT][hapmap]
rs73906694	0.91[ASN][1000 genomes]
rs73906696	0.91[ASN][1000 genomes]
rs8132719	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs878132	1.00[CHB][hapmap]
rs9680153	0.91[ASN][1000 genomes]
rs9976424	0.88[EUR][1000 genomes]
rs9981079	1.00[EUR][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	esv33817	chr21:45169412-46031810	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	121 gene(s)	inside rSNPs	diseases
2	nsv913887	chr21:45344799-45670770	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv913888	chr21:45351206-45428278	Genic enhancers Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv913889	chr21:45361044-45414119	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv1063752	chr21:45406095-45460342	Flanking Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45378800-45420200	Weak transcription	Right Atrium	heart
2	chr21:45393200-45413800	Weak transcription	HSMMtube	muscle
3	chr21:45402000-45408800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr21:45404000-45417400	Weak transcription	Gastric	stomach
5	chr21:45404800-45408200	Enhancers	Brain Inferior Temporal Lobe	brain
6	chr21:45405400-45408200	Enhancers	Brain Angular Gyrus	brain
7	chr21:45405400-45408200	Enhancers	Brain Anterior Caudate	brain
8	chr21:45405400-45408200	Enhancers	Brain Cingulate Gyrus	brain
9	chr21:45405400-45408200	Enhancers	Brain Substantia Nigra	brain
10	chr21:45405400-45409200	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr21:45405600-45409400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
12	chr21:45405800-45408800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr21:45406200-45408200	Bivalent Enhancer	HepG2	liver
14	chr21:45406200-45408800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr21:45406200-45411000	Weak transcription	Placenta	Placenta
16	chr21:45406800-45408200	Enhancers	Ovary	ovary
17	chr21:45406800-45409600	Enhancers	Right Ventricle	heart
18	chr21:45407000-45409000	Enhancers	Left Ventricle	heart
19	chr21:45407000-45409600	Enhancers	Spleen	Spleen
20	chr21:45407200-45408200	Enhancers	Brain Hippocampus Middle	brain
21	chr21:45407400-45408400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
22	chr21:45408000-45408200	Enhancers	Esophagus	oesophagus
23	chr21:45408000-45408200	Bivalent Enhancer	Fetal Intestine Large	intestine
24	chr21:45408000-45408200	Enhancers	Pancreas	Pancrea
25	chr21:45408000-45409400	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle

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