Variant report

Variant	rs73496466
Chromosome Location	chr11:65722358-65722359
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:65711625..65713859-chr11:65721038..65723280,2	K562	blood:
2	chr11:65679333..65681009-chr11:65720211..65722785,2	MCF-7	breast:
3	chr11:65714644..65718339-chr11:65719708..65722751,5	K562	blood:
4	chr11:65711139..65713859-chr11:65720911..65722538,2	K562	blood:

Variant related genes	Relation type
ENSG00000175513	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11545221	0.85[EUR][1000 genomes]
rs12575004	0.85[EUR][1000 genomes]
rs59156593	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs59768626	1.00[AMR][1000 genomes]
rs66602960	0.90[EUR][1000 genomes]
rs72926858	0.90[EUR][1000 genomes]
rs72926862	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72926898	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72928826	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72928851	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72928854	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72928860	0.85[EUR][1000 genomes]
rs72928868	1.00[EUR][1000 genomes]
rs72928879	0.85[EUR][1000 genomes]
rs72928892	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72928895	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72930912	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72930958	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72930976	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72930978	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72930984	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	esv2758274	chr11:65559893-65722363	Genic enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
3	esv2759834	chr11:65559893-65722363	Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
4	nsv427890	chr11:65559893-65722363	Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
5	nsv897761	chr11:65580638-65738566	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	186 gene(s)	inside rSNPs	diseases
6	nsv897762	chr11:65613218-65758854	Active TSS Flanking Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	185 gene(s)	inside rSNPs	diseases
7	nsv897765	chr11:65623708-65758854	Strong transcription Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
8	nsv832191	chr11:65632329-65806120	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
9	nsv948711	chr11:65692760-65949674	Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
10	nsv897768	chr11:65715210-65842064	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
11	nsv983036	chr11:65721564-65725846	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65709200-65726000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr11:65714000-65728400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr11:65714400-65728400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:65715400-65726000	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr11:65715400-65726200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr11:65715400-65728400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr11:65720200-65722400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr11:65720200-65728200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr11:65720800-65723400	Weak transcription	HepG2	liver
10	chr11:65721400-65726000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr11:65722000-65723200	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr11:65722200-65722800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr11:65722200-65722800	Enhancers	NHEK	skin

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