Variant report

Variant	rs11168893
Chromosome Location	chr12:49548834-49548835
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:49538806..49541687-chr12:49548560..49551215,2	K562	blood:
2	chr12:49480701..49482442-chr12:49548243..49551237,2	K562	blood:
3	chr12:49524098..49527072-chr12:49548766..49551662,5	MCF-7	breast:
4	chr12:49523790..49527558-chr12:49545519..49549744,4	K562	blood:

Variant related genes	Relation type
ENSG00000258017	Chromatin interaction
ENSG00000123416	Chromatin interaction
ENSG00000200309	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1039225	0.94[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap]
rs10747561	0.94[CHB][hapmap];0.88[CHD][hapmap];0.95[JPT][hapmap]
rs10747562	0.94[CHB][hapmap];0.94[CHD][hapmap];0.84[JPT][hapmap]
rs10747563	0.89[CHB][hapmap];0.80[JPT][hapmap]
rs10783302	0.94[CHB][hapmap];0.94[CHD][hapmap];0.95[JPT][hapmap]
rs10783308	0.94[CHB][hapmap];0.97[CHD][hapmap];0.90[JPT][hapmap]
rs10875924	0.87[CHB][hapmap];1.00[JPT][hapmap]
rs10875928	0.94[CHB][hapmap];0.97[CHD][hapmap];0.90[JPT][hapmap]
rs10875931	0.94[CHB][hapmap];0.94[CHD][hapmap];0.90[JPT][hapmap]
rs10875934	0.90[CEU][hapmap];0.89[CHB][hapmap];0.85[CHD][hapmap];0.86[GIH][hapmap];0.80[JPT][hapmap]
rs11168857	0.94[CHB][hapmap];0.94[CHD][hapmap];0.95[JPT][hapmap]
rs11168862	0.94[CHB][hapmap];0.91[CHD][hapmap];0.84[JPT][hapmap]
rs11168884	0.89[CHB][hapmap]
rs11168910	0.94[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap]
rs12229524	0.94[CHB][hapmap];0.97[CHD][hapmap];0.90[JPT][hapmap]
rs1874908	0.94[CHB][hapmap];0.94[CHD][hapmap];0.90[JPT][hapmap]
rs1991427	0.88[CHB][hapmap];0.85[JPT][hapmap]
rs2047101	0.94[CHB][hapmap];0.95[JPT][hapmap]
rs2162644	0.94[CHB][hapmap];0.90[JPT][hapmap]
rs2279596	0.94[CHB][hapmap];0.94[CHD][hapmap];0.95[JPT][hapmap]
rs2334930	0.94[CHB][hapmap];0.94[CHD][hapmap];0.90[JPT][hapmap]
rs2753	0.94[CHB][hapmap];0.97[CHD][hapmap];0.90[JPT][hapmap]
rs3741621	0.94[CHB][hapmap];0.94[CHD][hapmap];0.95[JPT][hapmap]
rs7306084	0.89[CHB][hapmap];0.80[JPT][hapmap]
rs731350	0.94[CHB][hapmap];0.90[JPT][hapmap]
rs7954521	0.89[CHB][hapmap];0.85[JPT][hapmap]
rs7954530	0.94[CHB][hapmap];0.94[CHD][hapmap];0.90[JPT][hapmap]
rs7957998	0.94[CHB][hapmap];0.89[JPT][hapmap]
rs7958241	0.89[CHB][hapmap];0.94[CHD][hapmap];0.84[JPT][hapmap]
rs7959497	0.89[CHB][hapmap];0.85[CHD][hapmap]
rs7969967	0.94[CHB][hapmap];1.00[CHD][hapmap];0.90[JPT][hapmap]
rs9325145	0.94[CHB][hapmap];0.97[CHD][hapmap];0.90[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051161	chr12:49314550-49828473	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
2	nsv541489	chr12:49314550-49828473	Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
3	nsv1036452	chr12:49376285-49867760	Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	315 gene(s)	inside rSNPs	diseases
4	esv3417605	chr12:49521878-49578961	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
5	nsv428801	chr12:49536659-49744884	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49527000-49555200	Weak transcription	Thymus	Thymus
2	chr12:49538800-49553800	Weak transcription	K562	blood

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