Variant report

Variant	rs2830593
Chromosome Location	chr21:28346179-28346180
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10482979	1.00[CHD][hapmap]
rs11700721	1.00[CHD][hapmap]
rs13046440	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13048512	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1995097	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs229053	1.00[CHD][hapmap]
rs2830552	1.00[ASN][1000 genomes]
rs2830591	1.00[CHD][hapmap]
rs2830603	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2830616	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34176988	1.00[ASN][1000 genomes]
rs34663667	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34855936	0.83[ASN][1000 genomes]
rs34956452	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35188003	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35424917	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55933916	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56356255	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62216011	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6516749	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7281442	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8130155	1.00[ASN][1000 genomes]
rs9977754	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv834068	chr21:28179670-28360808	Bivalent Enhancer Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2830593	NCRNA00189	cis	parietal	SCAN

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28340400-28349600	Weak transcription	HSMM	muscle
2	chr21:28342400-28346200	Weak transcription	Fetal Muscle Leg	muscle
3	chr21:28345000-28346400	Enhancers	NHDF-Ad	bronchial
4	chr21:28345600-28346200	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr21:28345800-28346400	Enhancers	Osteobl	bone
6	chr21:28346000-28346200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr21:28346000-28346400	Enhancers	Duodenum Smooth Muscle	Duodenum
8	chr21:28346000-28346800	Enhancers	Ovary	ovary
9	chr21:28346000-28349800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links