Variant report

Variant	rs1469982
Chromosome Location	chr2:86237750-86237751
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:86230802..86233704-chr2:86235020..86238319,3	K562	blood:

Extended variants
information (count: 66 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10168997	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10187875	1.00[ASN][1000 genomes]
rs10779967	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11127012	0.93[CEU][hapmap]
rs11127015	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11885520	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11886175	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11890563	0.96[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11891096	0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11895453	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11903682	0.98[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12473739	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs13353	0.91[ASN][1000 genomes]
rs13390107	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13420958	1.00[ASN][1000 genomes]
rs13431245	0.92[ASN][1000 genomes]
rs1424516	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1469981	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17579744	0.93[CEU][hapmap];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1978842	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2059353	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2288117	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs311561	0.96[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs311570	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs311580	0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs311581	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs311582	0.96[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs311583	1.00[ASN][1000 genomes]
rs311584	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs311586	0.86[AFR][1000 genomes]
rs34892520	0.89[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs3770073	0.84[ASN][1000 genomes]
rs3810828	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4832027	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4832028	0.91[ASN][1000 genomes]
rs4832239	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4832254	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs57339071	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58077381	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6707736	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6708805	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6715623	1.00[ASN][1000 genomes]
rs6720431	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6723248	1.00[ASN][1000 genomes]
rs6741224	0.93[CEU][hapmap];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6749218	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6752561	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72847838	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72847843	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72847845	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72847853	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7340327	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7558040	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7565645	1.00[JPT][hapmap]
rs7569121	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7583021	0.91[ASN][1000 genomes]
rs7592211	0.91[ASN][1000 genomes]
rs7597608	0.82[ASN][1000 genomes]
rs7599498	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs918856	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs929916	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9677675	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9679308	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs979940	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001104	chr2:86182021-86271923	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv535807	chr2:86182021-86271923	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1469982	IMMT	cis	lymphoblastoid	seeQTL

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86234200-86238800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:86235200-86238400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:86237400-86238000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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