Variant report

Variant	rs11169128
Chromosome Location	chr12:50124039-50124040
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:50099881..50101887-chr12:50123628..50126324,2	K562	blood:
2	chr12:50122385..50125732-chr12:50134015..50135734,4	MCF-7	breast:
3	chr12:50123501..50125274-chr12:50128221..50130200,2	K562	blood:
4	chr12:50123032..50130125-chr12:50133371..50137777,14	K562	blood:
5	chr12:50017567..50019258-chr12:50123416..50125896,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000161791	Chromatin interaction
ENSG00000139644	Chromatin interaction

Extended variants
information (count: 88 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs10160960	0.83[ASN][1000 genomes]
rs10161088	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10219602	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1049986	1.00[CHB][hapmap];0.92[CHD][hapmap]
rs1078216	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.85[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10875968	1.00[CHB][hapmap]
rs11169065	1.00[CHB][hapmap]
rs11169069	1.00[CHB][hapmap]
rs11169073	1.00[CHB][hapmap]
rs11169081	1.00[CHB][hapmap]
rs11169082	1.00[CHB][hapmap]
rs11169092	1.00[CHB][hapmap]
rs11169097	1.00[CHB][hapmap]
rs11169104	1.00[CHB][hapmap]
rs11169106	1.00[CHB][hapmap]
rs11169108	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169121	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169129	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169130	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.84[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169132	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11503899	1.00[CEU][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11833411	1.00[CHB][hapmap]
rs11834380	1.00[CHB][hapmap]
rs12299505	1.00[CHB][hapmap]
rs12303310	1.00[CHB][hapmap]
rs12304910	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12306114	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12306565	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12308567	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12309717	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12310510	1.00[CHB][hapmap]
rs12311839	1.00[CHB][hapmap]
rs12314676	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12314795	1.00[CHB][hapmap]
rs12315732	1.00[CEU][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12316284	1.00[CHB][hapmap];0.85[CHD][hapmap]
rs12321819	1.00[CHB][hapmap]
rs12321910	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12321935	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13906	1.00[CHB][hapmap]
rs1470906	1.00[CHB][hapmap]
rs1574326	1.00[CHB][hapmap];0.92[CHD][hapmap]
rs17123808	1.00[CHB][hapmap]
rs17123981	1.00[CHB][hapmap]
rs1902329	1.00[CHB][hapmap]
rs1902330	1.00[CHB][hapmap]
rs2278068	1.00[CHB][hapmap]
rs2278069	1.00[CHB][hapmap]
rs2303305	1.00[CHB][hapmap]
rs2336058	1.00[CHB][hapmap];0.92[CHD][hapmap]
rs28654319	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28755804	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35275181	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs3815832	1.00[CHB][hapmap]
rs3887728	1.00[CHB][hapmap]
rs4133070	1.00[CHB][hapmap]
rs4563	1.00[CHB][hapmap]
rs4584654	1.00[CHB][hapmap];0.92[CHD][hapmap]
rs56784440	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57144906	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58250762	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59511398	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59811112	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60402517	0.85[ASN][1000 genomes]
rs7131915	1.00[CHB][hapmap]
rs7136772	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7136990	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7137976	1.00[CHB][hapmap];0.92[CHD][hapmap]
rs7296281	1.00[CHB][hapmap]
rs7301209	1.00[CHB][hapmap]
rs73306854	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73306885	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73309015	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7688	1.00[CHB][hapmap];0.92[CHD][hapmap]
rs7952734	1.00[CHB][hapmap]
rs7953911	1.00[CHB][hapmap]
rs7954994	1.00[CHB][hapmap]
rs7956089	1.00[CHB][hapmap]
rs7956181	1.00[CHB][hapmap]
rs7963954	0.85[CHD][hapmap]
rs7965658	1.00[CHB][hapmap]
rs7970241	1.00[CHB][hapmap]
rs7973389	1.00[CHB][hapmap]
rs7975599	1.00[CHB][hapmap]
rs7977389	1.00[CHB][hapmap]
rs876889	1.00[CHB][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	nsv1045327	chr12:49975040-50551375	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
2	nsv541490	chr12:49975040-50551375	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 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	chr12:50123800-50124800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr12:50123800-50125400	Enhancers	K562	blood

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