Variant report

Variant	rs2830698
Chromosome Location	chr21:28481280-28481281
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1236213	0.92[ASN][1000 genomes]
rs1236214	0.95[ASN][1000 genomes]
rs1236215	0.93[ASN][1000 genomes]
rs1236216	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1236217	0.98[ASN][1000 genomes]
rs13052896	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2830659	0.84[EUR][1000 genomes]
rs2830662	0.84[EUR][1000 genomes]
rs2830684	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2830689	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2830715	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2830716	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34618216	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7275831	0.84[EUR][1000 genomes]
rs7278482	0.83[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	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2830698	ADAMTS5	cis	cerebellum	SCAN

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28478000-28483200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr21:28478200-28483400	Weak transcription	Ovary	ovary
3	chr21:28478200-28483600	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr21:28479400-28482600	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr21:28480400-28481400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr21:28480400-28481400	Enhancers	Fetal Lung	lung
7	chr21:28480400-28481800	Enhancers	Placenta Amnion	Placenta Amnion
8	chr21:28480400-28482000	Enhancers	Colon Smooth Muscle	Colon
9	chr21:28480600-28481400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr21:28480600-28481400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr21:28480600-28481400	Enhancers	Muscle Satellite Cultured Cells	--
12	chr21:28480600-28481400	Enhancers	Fetal Kidney	kidney
13	chr21:28480600-28481600	Enhancers	NHDF-Ad	bronchial
14	chr21:28480800-28481400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr21:28481200-28482200	Enhancers	Rectal Smooth Muscle	rectum
16	chr21:28481200-28484000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr21:28481200-28484000	Weak transcription	NHEK	skin

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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