Variant report

Variant	rs11749621
Chromosome Location	chr5:80643329-80643330
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10371	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11740623	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11741065	1.00[ASN][1000 genomes]
rs11741735	1.00[ASN][1000 genomes]
rs11745197	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11950300	1.00[CHB][hapmap]
rs17228156	1.00[CHB][hapmap]
rs56020218	1.00[ASN][1000 genomes]
rs57817848	1.00[ASN][1000 genomes]
rs6452401	1.00[ASN][1000 genomes]
rs6452402	1.00[ASN][1000 genomes]
rs72771187	1.00[ASN][1000 genomes]
rs7717621	1.00[ASN][1000 genomes]
rs7717804	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs9968731	1.00[CHB][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024844	chr5:79862428-80860430	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80636600-80645600	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr5:80640800-80648000	Weak transcription	HepG2	liver
3	chr5:80642200-80643600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr5:80642200-80647200	Weak transcription	Liver	Liver

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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