Variant report

Variant	rs12361442
Chromosome Location	chr11:9658122-9658123
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10743114	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10743115	0.91[EUR][1000 genomes]
rs10770047	0.82[CEU][hapmap]
rs10770053	0.84[EUR][1000 genomes]
rs10840274	0.82[CEU][hapmap]
rs10840279	0.86[EUR][1000 genomes]
rs11042452	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11042453	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11042454	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12273601	0.86[CEU][hapmap]
rs1865558	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2060477	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4910483	0.83[AMR][1000 genomes]
rs7105378	0.81[EUR][1000 genomes]
rs7109585	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7118466	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7118581	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs715333	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs737617	0.80[AMR][1000 genomes];0.86[EUR][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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12361442	SWAP70	cis	multi-tissue	Pritchard
rs12361442	SWAP70	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9651000-9658400	Weak transcription	Spleen	Spleen
2	chr11:9656000-9659600	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr11:9656000-9660200	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr11:9656000-9660600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr11:9656200-9659400	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr11:9656200-9660200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr11:9656200-9660400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr11:9656400-9660200	Weak transcription	Primary B cells from cord blood	blood
9	chr11:9656600-9660600	Weak transcription	Primary B cells from peripheral blood	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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