Variant report

Variant	rs62219876
Chromosome Location	chr21:40273927-40273928
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:40271835..40274806-chr21:40278210..40280286,3	K562	blood:
2	chr21:40273169..40275089-chr21:40277742..40279439,2	MCF-7	breast:
3	chr21:40265993..40268678-chr21:40271518..40274159,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000227721	Chromatin interaction
ENSG00000272015	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs405448	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs425716	0.82[EUR][1000 genomes]
rs457164	0.90[ASN][1000 genomes]
rs462481	0.90[ASN][1000 genomes]
rs467571	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs467967	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs468004	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs468443	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs468671	0.83[AFR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs468959	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs468981	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs469219	0.81[AFR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs469366	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs469554	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs469557	0.86[AFR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs469564	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs469597	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57966107	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60559455	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62217833	0.83[AFR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62217834	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62217840	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62219877	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62219878	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62219879	0.98[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][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	nsv1062425	chr21:40172471-40380976	Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv544442	chr21:40172471-40380976	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv587477	chr21:40228920-40512004	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
4	nsv587478	chr21:40243459-40275033	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40260000-40275200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr21:40270000-40274800	Weak transcription	Psoas Muscle	Psoas
3	chr21:40270600-40274400	Weak transcription	NHEK	skin
4	chr21:40270600-40278600	Weak transcription	Liver	Liver
5	chr21:40270800-40274400	Weak transcription	HMEC	breast
6	chr21:40271000-40274600	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr21:40271200-40274600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr21:40271400-40274000	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr21:40271400-40274400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr21:40271600-40275200	Weak transcription	Hela-S3	cervix
11	chr21:40273600-40277800	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr21:40273800-40284800	Enhancers	Breast Myoepithelial Primary Cells	Breast

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