Variant report

Variant	rs2205127
Chromosome Location	chr21:40510696-40510697
allele	A/G
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:39985870..39986812-chr21:40509844..40510751,3	MCF-7	breast:
2	chr21:40509643..40512150-chr21:40518013..40520045,2	MCF-7	breast:
3	chr21:39883475..39884196-chr21:40510275..40510818,2	MCF-7	breast:
4	chr21:39992817..39993654-chr21:40509875..40510777,2	K562	blood:
5	chr21:40106190..40107075-chr21:40510093..40510727,2	MCF-7	breast:
6	chr21:40510400..40513231-chr21:40543970..40546518,2	K562	blood:
7	chr21:40508919..40510816-chr21:40719509..40722111,2	K562	blood:
8	chr21:40460308..40461233-chr21:40509803..40510770,2	MCF-7	breast:
9	chr21:40176662..40177180-chr21:40510094..40510804,2	MCF-7	breast:

No data

No data

No data

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs4314079	0.86[ASN][1000 genomes]
rs73217539	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv1061831	chr21:40376316-40583555	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv544443	chr21:40376316-40583555	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40509400-40513600	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr21:40509600-40513200	Weak transcription	Placenta	Placenta
3	chr21:40509800-40512000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr21:40509800-40513200	Weak transcription	Fetal Muscle Leg	muscle
5	chr21:40509800-40513600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr21:40509800-40513800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr21:40509800-40515800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr21:40510200-40510800	Active TSS	A549	lung
9	chr21:40510200-40513400	Weak transcription	Fetal Lung	lung
10	chr21:40510600-40515000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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