Variant report

Variant	rs9981079
Chromosome Location	chr21:45408828-45408829
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:45407518..45410638-chr21:45429603..45433630,5	K562	blood:
2	chr21:45407342..45409027-chr21:45430207..45431871,2	MCF-7	breast:
3	chr21:45405585..45409105-chr21:45429357..45434813,4	K562	blood:
4	chr21:45406297..45409169-chr21:45425918..45428099,2	K562	blood:
5	chr21:45406262..45409229-chr21:45418247..45420047,2	K562	blood:
6	chr21:45393130..45395112-chr21:45407277..45409504,2	K562	blood:
7	chr21:45395932..45398037-chr21:45406476..45409180,2	K562	blood:

Variant related genes	Relation type
ENSG00000160218	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs8129146	1.00[EUR][1000 genomes]
rs8132719	1.00[EUR][1000 genomes]
rs9976424	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[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:22 , 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	chr21:45404000-45417400	Weak transcription	Gastric	stomach
4	chr21:45405400-45409200	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr21:45405600-45409400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
6	chr21:45406200-45411000	Weak transcription	Placenta	Placenta
7	chr21:45406800-45409600	Enhancers	Right Ventricle	heart
8	chr21:45407000-45409000	Enhancers	Left Ventricle	heart
9	chr21:45407000-45409600	Enhancers	Spleen	Spleen
10	chr21:45408000-45409400	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
11	chr21:45408200-45411400	Weak transcription	Ovary	ovary
12	chr21:45408200-45413400	Weak transcription	Brain Cingulate Gyrus	brain
13	chr21:45408200-45413400	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr21:45408200-45413600	Weak transcription	Brain Hippocampus Middle	brain
15	chr21:45408200-45413600	Weak transcription	Brain Substantia Nigra	brain
16	chr21:45408200-45413800	Weak transcription	Brain Angular Gyrus	brain
17	chr21:45408600-45409000	Enhancers	Pancreas	Pancrea
18	chr21:45408600-45409200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
19	chr21:45408800-45409000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr21:45408800-45409000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr21:45408800-45409000	Bivalent Enhancer	HepG2	liver
22	chr21:45408800-45409200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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