Variant report

Variant	rs12311878
Chromosome Location	chr12:56758083-56758084
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:56726408..56728632-chr12:56756602..56759290,3	K562	blood:
2	chr12:56752238..56754707-chr12:56756251..56758252,3	MCF-7	breast:
3	chr12:56726408..56728632-chr12:56756602..56759290,2	K562	blood:

Variant related genes	Relation type
ENSG00000170581	Chromatin interaction
ENSG00000135473	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10876883	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11171777	1.00[TSI][hapmap]
rs11171812	1.00[EUR][1000 genomes]
rs11171818	0.93[ASW][hapmap];0.93[LWK][hapmap];0.84[YRI][hapmap];0.91[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs11171819	0.93[ASW][hapmap];0.84[YRI][hapmap];0.82[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs11171822	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs11171823	1.00[ASW][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11830379	0.87[ASW][hapmap];0.93[LWK][hapmap];0.84[YRI][hapmap];0.86[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs11833064	0.89[AFR][1000 genomes]
rs11834728	1.00[TSI][hapmap]
rs11835538	1.00[EUR][1000 genomes]
rs12305578	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12318887	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs12320265	1.00[TSI][hapmap]
rs12322356	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs2463365	1.00[TSI][hapmap]
rs2695783	1.00[TSI][hapmap]
rs2695784	1.00[TSI][hapmap]
rs2930788	1.00[TSI][hapmap]
rs55666835	1.00[EUR][1000 genomes]
rs55728562	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55818846	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs57387549	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs59286728	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs61522113	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs703823	1.00[TSI][hapmap]
rs7136420	1.00[TSI][hapmap]
rs73324353	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs73324358	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs73324365	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7489249	1.00[TSI][hapmap]
rs773658	1.00[TSI][hapmap]
rs773659	1.00[TSI][hapmap]
rs773663	1.00[TSI][hapmap]
rs7954200	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs7969172	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7975486	1.00[TSI][hapmap]
rs7979812	1.00[CHD][hapmap]
rs9737784	1.00[TSI][hapmap]

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	nsv1043622	chr12:56571476-56974448	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
2	nsv541500	chr12:56571476-56974448	Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 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	chr12:56755600-56760400	Weak transcription	Primary B cells from peripheral blood	blood
2	chr12:56756800-56761200	Enhancers	HepG2	liver
3	chr12:56757000-56759800	Enhancers	Liver	Liver

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