Variant report

Variant	rs72945592
Chromosome Location	chr11:77360496-77360497
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:77347391..77349326-chr11:77360407..77363376,3	MCF-7	breast:
2	chr11:77348510..77350805-chr11:77358288..77361555,3	K562	blood:
3	chr11:77300520..77303029-chr11:77359483..77361400,2	K562	blood:

Variant related genes	Relation type
ENSG00000074201	Chromatin interaction
ENSG00000178301	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10899394	0.81[EUR][1000 genomes]
rs10899399	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10899404	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11237244	0.82[EUR][1000 genomes]
rs11237263	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11237280	0.81[EUR][1000 genomes]
rs11603438	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11604207	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12285765	0.91[ASN][1000 genomes]
rs12286317	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17752006	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1783544	0.91[ASN][1000 genomes]
rs2154972	0.92[ASN][1000 genomes]
rs24356	0.91[ASN][1000 genomes]
rs2508189	0.87[ASN][1000 genomes]
rs4322421	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4344516	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4945220	0.91[ASN][1000 genomes]
rs537811	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56218634	0.81[EUR][1000 genomes]
rs588217	0.91[ASN][1000 genomes]
rs598071	0.91[ASN][1000 genomes]
rs614495	0.91[ASN][1000 genomes]
rs623907	0.92[ASN][1000 genomes]
rs635195	0.91[ASN][1000 genomes]
rs636971	0.91[ASN][1000 genomes]
rs643388	0.81[EUR][1000 genomes]
rs648601	0.91[ASN][1000 genomes]
rs650171	0.92[ASN][1000 genomes]
rs6592738	0.80[EUR][1000 genomes]
rs663674	0.87[ASN][1000 genomes]
rs667225	0.91[ASN][1000 genomes]
rs694845	0.91[ASN][1000 genomes]
rs7122968	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7123080	0.92[ASN][1000 genomes]
rs72945598	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72947625	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72947668	0.90[EUR][1000 genomes]
rs72949616	0.81[EUR][1000 genomes]
rs72949618	0.81[EUR][1000 genomes]
rs7950873	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7951033	0.91[ASN][1000 genomes]
rs947841	0.87[ASN][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	nsv1048360	chr11:76900813-77387933	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv541089	chr11:76900813-77387933	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1049603	chr11:76900813-77520411	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv541090	chr11:76900813-77520411	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv1038974	chr11:77284036-77431228	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	nsv1041384	chr11:77284558-77419809	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv1048892	chr11:77290458-77431228	Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
8	nsv1053074	chr11:77290458-77435831	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
9	nsv468641	chr11:77301341-77420314	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
10	nsv555452	chr11:77301341-77420314	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
11	nsv1035494	chr11:77309696-77431228	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Active TSS 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	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:77356000-77361200	Weak transcription	HepG2	liver
2	chr11:77356000-77377800	Weak transcription	Osteobl	bone
3	chr11:77356800-77361000	Weak transcription	K562	blood
4	chr11:77359400-77368600	Weak transcription	HSMMtube	muscle
5	chr11:77360400-77361800	Enhancers	Fetal Intestine Large	intestine
6	chr11:77360400-77419200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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