Variant report

Variant	rs12283768
Chromosome Location	chr11:74452658-74452659
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:74450311..74452695-chr11:74458659..74461302,2	K562	blood:
2	chr11:74450962..74453851-chr11:74455594..74457970,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000166439	Chromatin interaction
ENSG00000227615	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10160407	1.00[ASN][1000 genomes]
rs10501418	1.00[CEU][hapmap]
rs11236224	1.00[ASN][1000 genomes]
rs11236229	1.00[ASN][1000 genomes]
rs11236239	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11236247	1.00[CEU][hapmap];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11236249	1.00[ASN][1000 genomes]
rs11236259	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs11501909	1.00[ASN][1000 genomes]
rs11501910	1.00[ASN][1000 genomes]
rs12270712	1.00[ASN][1000 genomes]
rs12271211	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12272764	1.00[ASN][1000 genomes]
rs12274227	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12275056	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12278314	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs12283412	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs12284331	1.00[ASN][1000 genomes]
rs12285302	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12286425	1.00[ASN][1000 genomes]
rs12286482	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs12287287	1.00[ASN][1000 genomes]
rs12288052	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs12290339	1.00[CEU][hapmap];0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4133526	1.00[ASN][1000 genomes]
rs56306513	1.00[ASN][1000 genomes]
rs57031821	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59481855	1.00[ASN][1000 genomes]
rs6592593	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7109667	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7125078	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7128783	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72991236	1.00[ASN][1000 genomes]
rs72991239	1.00[ASN][1000 genomes]
rs72991244	1.00[ASN][1000 genomes]
rs73490680	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73490691	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73492727	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73492743	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73492794	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73496929	1.00[ASN][1000 genomes]
rs73496931	1.00[ASN][1000 genomes]
rs7928010	1.00[CEU][hapmap];0.83[YRI][hapmap];0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7947106	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs9943586	1.00[CEU][hapmap];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757451	chr11:73842609-74545888	Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	esv2759837	chr11:73842609-74557597	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	esv34979	chr11:73878688-74533452	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
4	esv2758277	chr11:73887567-74557597	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
5	nsv825994	chr11:73936667-74534455	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
6	nsv932190	chr11:74359867-74618935	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	41 gene(s)	inside rSNPs	diseases
7	esv1840811	chr11:74452658-74488369	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:74445600-74459000	Weak transcription	A549	lung
2	chr11:74451200-74455600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr11:74451400-74457600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr11:74451400-74458600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr11:74451400-74458800	Weak transcription	Skeletal Muscle Female	skeletal muscle

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