Variant report

Variant	rs73220040
Chromosome Location	chr5:112194660-112194661
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:112194408..112196977-chr5:112198175..112200544,3	MCF-7	breast:
2	chr5:112188139..112189765-chr5:112194415..112196734,2	K562	blood:

Variant related genes	Relation type
ENSG00000153037	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs11951746	1.00[AMR][1000 genomes]
rs17134881	1.00[AMR][1000 genomes]
rs17134929	1.00[AMR][1000 genomes]
rs17135094	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55838903	1.00[AMR][1000 genomes]
rs56004167	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56044723	1.00[AMR][1000 genomes]
rs56224801	1.00[AMR][1000 genomes]
rs57076790	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57186392	1.00[AMR][1000 genomes]
rs58659317	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58929329	1.00[AMR][1000 genomes]
rs60959200	1.00[AMR][1000 genomes]
rs61667491	1.00[AMR][1000 genomes]
rs6866838	1.00[AMR][1000 genomes]
rs6875646	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6895431	1.00[AMR][1000 genomes]
rs73214399	1.00[AMR][1000 genomes]
rs73216208	1.00[AMR][1000 genomes]
rs73216212	1.00[AMR][1000 genomes]
rs73216228	1.00[AMR][1000 genomes]
rs73216233	1.00[AMR][1000 genomes]
rs73216237	1.00[AMR][1000 genomes]
rs73216295	1.00[AMR][1000 genomes]
rs73216300	1.00[AMR][1000 genomes]
rs73218128	1.00[AMR][1000 genomes]
rs73218131	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73218137	1.00[AMR][1000 genomes]
rs73218139	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73218152	1.00[AMR][1000 genomes]
rs73220042	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73220045	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73220047	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73221991	0.90[AFR][1000 genomes]
rs73223916	0.83[AFR][1000 genomes]
rs73791429	1.00[AMR][1000 genomes]
rs73791483	1.00[AMR][1000 genomes]
rs7728137	1.00[AMR][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	esv33290	chr5:112110808-112238295	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv1029271	chr5:112113308-112325943	Strong transcription Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv1034239	chr5:112161239-112194693	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
4	nsv529536	chr5:112174106-112269758	Genic enhancers Strong transcription Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv599394	chr5:112185491-112446323	Weak transcription Active TSS Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
6	nsv870231	chr5:112192379-112247084	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112189400-112196200	Weak transcription	Spleen	Spleen
2	chr5:112191400-112196400	Weak transcription	HepG2	liver
3	chr5:112192400-112196400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr5:112193600-112196000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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