Variant report

Variant	rs2830231
Chromosome Location	chr21:27819598-27819599
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs17002187	1.00[JPT][hapmap]
rs219639	0.86[JPT][hapmap]
rs8133607	0.92[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs9975416	0.90[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs9984441	0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1056506	chr21:27332898-28049880	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv544412	chr21:27332898-28049880	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv459222	chr21:27635915-27850971	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv587334	chr21:27635915-27850971	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv587335	chr21:27715263-27955385	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
6	nsv913660	chr21:27815652-27869676	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:27811600-27821000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr21:27813800-27820200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr21:27815400-27821000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr21:27816600-27821000	Enhancers	NHDF-Ad	bronchial
5	chr21:27817200-27821000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr21:27817600-27820000	Enhancers	Muscle Satellite Cultured Cells	--
7	chr21:27817600-27822000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr21:27818000-27820800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr21:27818600-27821000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr21:27818600-27822000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr21:27818600-27822400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr21:27818800-27820200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr21:27818800-27820600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr21:27818800-27821400	Enhancers	HMEC	breast
15	chr21:27819000-27820600	Weak transcription	NHLF	lung
16	chr21:27819000-27821000	Enhancers	NHEK	skin
17	chr21:27819200-27819600	Weak transcription	HSMMtube	muscle
18	chr21:27819200-27820200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr21:27819200-27820200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr21:27819200-27820800	Weak transcription	Osteobl	bone
21	chr21:27819200-27822000	Enhancers	HSMM	muscle
22	chr21:27819400-27820600	Weak transcription	NH-A	brain
23	chr21:27819400-27821000	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr21:27819400-27821600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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