Variant report

Variant	rs2830695
Chromosome Location	chr21:28478511-28478512
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11088019	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17663092	1.00[CHB][hapmap]
rs2830692	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2830693	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2830694	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2830700	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2830711	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2830727	1.00[CHD][hapmap]
rs62221579	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62222959	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs928268	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9977087	1.00[CHB][hapmap]
rs9978597	1.00[CHB][hapmap]

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	nsv1067475	chr21:28238746-29046707	Enhancers Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	esv2758532	chr21:28380230-28540443	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
3	esv2758817	chr21:28380230-28540443	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
4	nsv1062808	chr21:28443252-28537209	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
5	nsv544414	chr21:28443252-28537209	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28477200-28479400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr21:28477600-28478800	Enhancers	Fetal Kidney	kidney
3	chr21:28477600-28479000	Enhancers	Osteobl	bone
4	chr21:28478000-28478600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr21:28478000-28480400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr21:28478000-28480600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr21:28478000-28480600	Weak transcription	HSMMtube	muscle
8	chr21:28478000-28480600	Weak transcription	NHEK	skin
9	chr21:28478000-28483200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr21:28478200-28478600	Enhancers	Hela-S3	cervix
11	chr21:28478200-28478800	Weak transcription	Placenta	Placenta
12	chr21:28478200-28479400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr21:28478200-28480600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr21:28478200-28480600	Weak transcription	NHDF-Ad	bronchial
15	chr21:28478200-28480800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr21:28478200-28483400	Weak transcription	Ovary	ovary
17	chr21:28478200-28483600	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr21:28478400-28480400	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr21:28478400-28480600	Weak transcription	Muscle Satellite Cultured Cells	--

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dbSNP/dbVar ID: rs12345 /nsv7879
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