Variant report

Variant	rs2223422
Chromosome Location	chr20:40818719-40818720
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:40817829..40822981-chr20:46412840..46417309,8	MCF-7	breast:
2	chr20:40814293..40823247-chr20:55839406..55843117,11	MCF-7	breast:
3	chr1:210545436..210547938-chr20:40817625..40819770,2	MCF-7	breast:
4	chr20:40818601..40822972-chr20:55845195..55849784,5	MCF-7	breast:
5	chr20:40818040..40821638-chr3:64033448..64036264,3	MCF-7	breast:
6	chr20:40814621..40823038-chr20:55816699..55826328,24	MCF-7	breast:
7	chr20:40818180..40822172-chr20:40822774..40826315,5	MCF-7	breast:
8	chr20:40814194..40820510-chr20:55816660..55821393,15	MCF-7	breast:
9	chr20:40818651..40823257-chr20:40826391..40832084,7	MCF-7	breast:
10	chr20:40818435..40820161-chr20:52480152..52482102,2	MCF-7	breast:

No data

No data

No data

Variant related genes	Relation type
ENSG00000226308	Chromatin interaction
ENSG00000196562	Chromatin interaction
ENSG00000200972	Chromatin interaction
ENSG00000101144	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs12624403	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12625660	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12625871	1.00[MEX][hapmap];0.87[TSI][hapmap];0.81[EUR][1000 genomes]
rs16986553	1.00[CEU][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6029997	0.89[EUR][1000 genomes]
rs6093610	1.00[CEU][hapmap]
rs6124418	1.00[CEU][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap];0.88[EUR][1000 genomes]
rs6124419	1.00[CEU][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap];0.90[EUR][1000 genomes]
rs6124420	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs6124431	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6130039	0.85[CEU][hapmap]
rs6130040	1.00[CEU][hapmap];0.85[TSI][hapmap]
rs6130051	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs6130052	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs6130055	0.92[EUR][1000 genomes]
rs6130094	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs8183826	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2751913	chr20:40422982-41269321	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	nsv532516	chr20:40451059-41097155	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:40805000-40820400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr20:40818400-40820800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

Quick Search:

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

what's new

Quick links