Variant report

Variant	rs11606947
Chromosome Location	chr11:65508237-65508238
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:65507614..65509746-chr11:65624233..65626717,2	K562	blood:
2	chr11:65481113..65483884-chr11:65507663..65510016,2	K562	blood:
3	chr11:65507408..65509885-chr11:65553475..65556094,2	MCF-7	breast:
4	chr11:65479344..65482613-chr11:65506130..65509163,3	K562	blood:

Variant related genes	Relation type
ENSG00000172818	Chromatin interaction
ENSG00000172732	Chromatin interaction
ENSG00000172977	Chromatin interaction
ENSG00000172757	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs1073602	0.83[ASN][1000 genomes]
rs1074155	0.83[ASN][1000 genomes]
rs1074156	0.83[ASN][1000 genomes]
rs10791822	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10896025	0.82[ASN][1000 genomes]
rs10896026	0.82[ASN][1000 genomes]
rs10896028	0.83[ASN][1000 genomes]
rs10896032	0.83[ASN][1000 genomes]
rs10896033	0.85[ASN][1000 genomes]
rs10896035	0.85[ASN][1000 genomes]
rs10896037	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10896038	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11227251	0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11227254	0.83[ASN][1000 genomes]
rs11227279	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11227281	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11227299	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11532071	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11537193	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11568300	0.83[ASN][1000 genomes]
rs11600918	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11601509	0.83[ASN][1000 genomes]
rs11604451	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11604462	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11604568	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12225620	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12289836	0.83[ASN][1000 genomes]
rs12802391	0.83[ASN][1000 genomes]
rs1466462	0.83[ASN][1000 genomes]
rs2236682	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28464085	0.84[ASN][1000 genomes]
rs4014192	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4014195	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4645927	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4645933	0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4930312	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4930313	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4930319	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56686587	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60626743	0.83[ASN][1000 genomes]
rs61893835	0.84[ASN][1000 genomes]
rs61895665	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6591185	0.83[ASN][1000 genomes]
rs6591187	0.85[ASN][1000 genomes]
rs6591188	0.84[ASN][1000 genomes]
rs7110576	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7115734	0.83[ASN][1000 genomes]
rs7120713	0.84[ASN][1000 genomes]
rs7123489	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7924510	0.83[ASN][1000 genomes]
rs7930301	0.84[ASN][1000 genomes]
rs7947604	0.85[AMR][1000 genomes]
rs7952133	0.85[ASN][1000 genomes]
rs948493	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs948494	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9666878	0.84[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	nsv897718	chr11:65140209-65577516	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1003 gene(s)	inside rSNPs	diseases
2	nsv897736	chr11:65335705-65676516	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	227 gene(s)	inside rSNPs	diseases
3	nsv430401	chr11:65419324-65788024	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	224 gene(s)	inside rSNPs	diseases
4	nsv897758	chr11:65490756-65564035	Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
5	nsv983035	chr11:65494712-65529501	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	esv3389596	chr11:65507376-65510174	Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65495400-65511400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr11:65507800-65511600	Weak transcription	Spleen	Spleen
3	chr11:65508200-65508400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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