Variant report

Variant	rs2830537
Chromosome Location	chr21:28169135-28169136
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:28168344..28170400-chr21:28409264..28410987,2	K562	blood:

Extended variants
information (count: 15 )
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	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2830533	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2830534	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:2 , 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

No data

Chromatin state (count:32 , 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	chr21:28167600-28169200	Enhancers	Brain Germinal Matrix	brain
3	chr21:28167600-28169400	Enhancers	Brain Inferior Temporal Lobe	brain
4	chr21:28167600-28169600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr21:28167600-28170000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr21:28167800-28169400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr21:28168000-28169200	Enhancers	Muscle Satellite Cultured Cells	--
8	chr21:28168000-28169400	Enhancers	Fetal Heart	heart
9	chr21:28168400-28169400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr21:28168400-28171600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr21:28168400-28172400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr21:28168400-28172600	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr21:28168400-28174600	Enhancers	Hela-S3	cervix
14	chr21:28168400-28176400	Weak transcription	Left Ventricle	heart
15	chr21:28168600-28169400	Enhancers	Brain Substantia Nigra	brain
16	chr21:28168600-28169600	Enhancers	Brain Hippocampus Middle	brain
17	chr21:28168600-28169600	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr21:28168800-28169600	Enhancers	Brain Cingulate Gyrus	brain
19	chr21:28168800-28171600	Weak transcription	Rectal Smooth Muscle	rectum
20	chr21:28168800-28172400	Weak transcription	HSMMtube	muscle
21	chr21:28168800-28173600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr21:28168800-28174000	Weak transcription	HSMM	muscle
23	chr21:28169000-28169200	Enhancers	Colon Smooth Muscle	Colon
24	chr21:28169000-28169400	Weak transcription	Fetal Stomach	stomach
25	chr21:28169000-28169600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr21:28169000-28171600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr21:28169000-28171800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr21:28169000-28171800	Weak transcription	Fetal Lung	lung
29	chr21:28169000-28171800	Weak transcription	NHLF	lung
30	chr21:28169000-28172200	Weak transcription	Osteobl	bone
31	chr21:28169000-28172400	Weak transcription	NHDF-Ad	bronchial
32	chr21:28169000-28172600	Enhancers	Ovary	ovary

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