Variant report

Variant	rs2830534
Chromosome Location	chr21:28168303-28168304
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs13047943	0.80[EUR][1000 genomes]
rs2067899	0.90[EUR][1000 genomes]
rs2830523	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2830533	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2830537	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2830545	0.90[EUR][1000 genomes]
rs2830546	0.90[EUR][1000 genomes]
rs57052686	0.87[EUR][1000 genomes]
rs59042813	0.87[EUR][1000 genomes]
rs59820829	0.90[EUR][1000 genomes]
rs60099514	0.89[EUR][1000 genomes]
rs8127836	0.80[EUR][1000 genomes]
rs872265	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1066573	chr21:28096356-28374354	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1057400	chr21:28104936-28359948	Strong transcription Genic enhancers Bivalent/Poised TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	esv3390983	chr21:28168060-28168660	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28163600-28172400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr21:28167200-28168400	Enhancers	Dnd41	blood
3	chr21:28167200-28168600	Enhancers	Ovary	ovary
4	chr21:28167600-28168400	Enhancers	Skeletal Muscle Female	skeletal muscle
5	chr21:28167600-28168400	Flanking Active TSS	Hela-S3	cervix
6	chr21:28167600-28168600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr21:28167600-28168600	Enhancers	NH-A	brain
8	chr21:28167600-28168800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr21:28167600-28169200	Enhancers	Brain Germinal Matrix	brain
10	chr21:28167600-28169400	Enhancers	Brain Inferior Temporal Lobe	brain
11	chr21:28167600-28169600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr21:28167600-28170000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr21:28167800-28168400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr21:28167800-28168600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr21:28167800-28168600	Enhancers	Fetal Muscle Leg	muscle
16	chr21:28167800-28168800	Enhancers	HSMMtube	muscle
17	chr21:28167800-28169000	Enhancers	Fetal Stomach	stomach
18	chr21:28167800-28169400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr21:28168000-28168400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr21:28168000-28168400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr21:28168000-28168400	Enhancers	Brain Cingulate Gyrus	brain
22	chr21:28168000-28168400	Enhancers	Fetal Intestine Small	intestine
23	chr21:28168000-28168400	Flanking Active TSS	Osteobl	bone
24	chr21:28168000-28168600	Enhancers	Colon Smooth Muscle	Colon
25	chr21:28168000-28168800	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr21:28168000-28168800	Enhancers	HSMM	muscle
27	chr21:28168000-28169000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr21:28168000-28169200	Enhancers	Muscle Satellite Cultured Cells	--
29	chr21:28168000-28169400	Enhancers	Fetal Heart	heart
30	chr21:28168200-28168400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr21:28168200-28168400	Enhancers	Placenta	Placenta
32	chr21:28168200-28168400	Enhancers	Left Ventricle	heart
33	chr21:28168200-28168600	Active TSS	Brain Anterior Caudate	brain
34	chr21:28168200-28168600	Active TSS	Brain Hippocampus Middle	brain
35	chr21:28168200-28168600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
36	chr21:28168200-28168800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr21:28168200-28168800	Active TSS	Brain Angular Gyrus	brain
38	chr21:28168200-28168800	Enhancers	Rectal Smooth Muscle	rectum
39	chr21:28168200-28169000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr21:28168200-28169000	Enhancers	Fetal Lung	lung
41	chr21:28168200-28169000	Enhancers	NHLF	lung

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