Variant report

Variant	rs12288444
Chromosome Location	chr11:9653496-9653497
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10743115	0.96[ASN][1000 genomes]
rs10840278	0.97[ASN][1000 genomes]
rs10840280	0.89[ASN][1000 genomes]
rs11042458	0.98[ASN][1000 genomes]
rs11042463	0.89[ASN][1000 genomes]
rs11602208	0.82[ASN][1000 genomes]
rs11605234	0.85[ASN][1000 genomes]
rs12275368	0.97[ASN][1000 genomes]
rs12288440	0.91[ASN][1000 genomes]
rs12790033	0.88[ASN][1000 genomes]
rs2082806	0.92[ASN][1000 genomes]
rs4910059	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6483580	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7109545	0.87[EUR][1000 genomes]
rs7120033	0.85[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	nsv896986	chr11:9636854-9679145	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv933855	chr11:9645441-10130519	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv1053369	chr11:9647837-9876054	Genic enhancers Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12288444	SWAP70	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9647800-9654800	Weak transcription	Primary B cells from cord blood	blood
2	chr11:9651000-9658400	Weak transcription	Spleen	Spleen
3	chr11:9652400-9653600	Enhancers	Monocytes-CD14+_RO01746	blood
4	chr11:9653000-9655200	Weak transcription	Primary B cells from peripheral blood	blood
5	chr11:9653400-9653600	Enhancers	Primary monocytes fromperipheralblood	blood

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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

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