Variant report

Variant	rs1286628
Chromosome Location	chr1:62193432-62193433
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:62188914..62195188-chr1:62202056..62212232,19	MCF-7	breast:
2	chr1:62189519..62191542-chr1:62192071..62194809,2	K562	blood:

Variant related genes	Relation type
ENSG00000132849	Chromatin interaction
ENSG00000162604	Chromatin interaction
ENSG00000271200	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs11207807	0.90[EUR][1000 genomes]
rs11207808	0.94[EUR][1000 genomes]
rs1151756	0.94[EUR][1000 genomes]
rs1151757	0.94[EUR][1000 genomes]
rs1151759	0.94[EUR][1000 genomes]
rs1151762	0.93[EUR][1000 genomes]
rs1151770	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1151771	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1151773	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1151775	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1151776	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12117475	0.90[EUR][1000 genomes]
rs12124430	0.90[EUR][1000 genomes]
rs12130241	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12130439	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12134102	0.90[EUR][1000 genomes]
rs12134205	0.90[EUR][1000 genomes]
rs12134428	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12137410	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12141280	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12141298	0.90[EUR][1000 genomes]
rs12144284	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1286624	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1286625	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1286626	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1286629	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1286630	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1286634	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1611797	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1620169	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1692131	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1692132	0.80[EUR][1000 genomes]
rs17378384	0.90[EUR][1000 genomes]
rs1779267	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2051135	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2051136	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2799626	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4443919	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6662941	0.85[ASN][1000 genomes]
rs6666057	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6691402	0.93[EUR][1000 genomes]
rs6697770	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6698656	0.85[ASN][1000 genomes]
rs72672375	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72672390	0.90[EUR][1000 genomes]
rs72674608	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7536565	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7538825	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7539026	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7550631	0.90[EUR][1000 genomes];0.93[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	nsv994970	chr1:61693951-62199657	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats 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	19 gene(s)	inside rSNPs	diseases
2	nsv1000294	chr1:61746280-62350718	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:62191400-62195200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:62191400-62207400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:62191600-62197000	Weak transcription	HepG2	liver

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