Variant report

Variant	rs7282249
Chromosome Location	chr21:17601435-17601436
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs12106318	0.83[ASN][1000 genomes]
rs12106447	0.83[ASN][1000 genomes]
rs1533	1.00[EUR][1000 genomes]
rs1534	0.96[EUR][1000 genomes]
rs1626109	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16994832	0.89[EUR][1000 genomes]
rs238973	0.96[EUR][1000 genomes]
rs238974	0.96[EUR][1000 genomes]
rs238976	0.96[EUR][1000 genomes]
rs239078	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs239080	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2823644	0.82[ASN][1000 genomes]
rs2823648	0.83[ASN][1000 genomes]
rs2823672	0.91[EUR][1000 genomes]
rs2823675	0.87[EUR][1000 genomes]
rs2823676	0.87[EUR][1000 genomes]
rs2823677	0.87[EUR][1000 genomes]
rs2823678	0.87[EUR][1000 genomes]
rs2823679	0.87[EUR][1000 genomes]
rs55847255	0.82[ASN][1000 genomes]
rs59897117	0.82[ASN][1000 genomes]
rs62219534	0.83[ASN][1000 genomes]
rs62219536	0.95[ASN][1000 genomes]
rs62219539	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62221866	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62221867	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62221868	1.00[EUR][1000 genomes]
rs7279847	0.82[ASN][1000 genomes]
rs73890704	0.82[ASN][1000 genomes]
rs8127653	0.84[ASN][1000 genomes]
rs8132985	0.82[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	nsv1066951	chr21:17458978-17603160	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv544381	chr21:17458978-17603160	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv432145	chr21:17559229-17628529	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv834051	chr21:17564843-17721764	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17584400-17619400	Weak transcription	Hela-S3	cervix
2	chr21:17585000-17612200	Weak transcription	Adipose Nuclei	Adipose
3	chr21:17585400-17604400	Weak transcription	Psoas Muscle	Psoas
4	chr21:17598000-17622200	Weak transcription	Ovary	ovary
5	chr21:17598000-17622400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr21:17598200-17604200	Weak transcription	Liver	Liver
7	chr21:17598600-17603000	Weak transcription	H9 Derived Neuron 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