Variant report

Variant	rs11111938
Chromosome Location	chr12:104625393-104625394
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10778321	0.85[JPT][hapmap]
rs10861185	0.85[JPT][hapmap]
rs10861187	0.85[JPT][hapmap]
rs10861197	0.85[JPT][hapmap]
rs11111913	0.81[ASN][1000 genomes]
rs11111921	0.86[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];0.93[CHD][hapmap];0.90[JPT][hapmap];0.81[LWK][hapmap];0.92[MEX][hapmap];0.93[TSI][hapmap];0.82[YRI][hapmap];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11111940	0.82[JPT][hapmap]
rs11111945	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11111979	0.85[JPT][hapmap]
rs11111980	0.85[JPT][hapmap]
rs11111987	0.85[JPT][hapmap]
rs11536084	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17202060	0.85[JPT][hapmap]
rs2629745	0.83[CEU][hapmap]
rs4445711	0.82[JPT][hapmap]
rs4595619	0.85[JPT][hapmap]
rs4628754	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4964635	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4964782	0.85[JPT][hapmap]
rs5018287	0.85[JPT][hapmap]
rs6539125	1.00[CEU][hapmap];0.90[CHD][hapmap];0.85[JPT][hapmap];0.84[MEX][hapmap];0.81[TSI][hapmap];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7294778	0.85[JPT][hapmap]
rs7310815	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.85[TSI][hapmap];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7311546	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7312300	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7487242	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7488680	0.85[JPT][hapmap]
rs7954970	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7958262	0.82[JPT][hapmap]
rs7966740	0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1842062	chr12:104531180-104638773	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	n/a
2	nsv899493	chr12:104548613-104703228	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv899494	chr12:104561521-104806232	Flanking Active TSS Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv1046606	chr12:104606617-104763734	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv1038609	chr12:104613847-104764981	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv541587	chr12:104613847-104764981	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104615000-104625800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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