Variant report

Variant	rs73220038
Chromosome Location	chr5:112194317-112194318
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	chr5:112191204..112194360-chr5:112195263..112198616,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000272869	Chromatin interaction
ENSG00000153037	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs17135067	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17135193	0.80[EUR][1000 genomes]
rs17285666	0.86[EUR][1000 genomes]
rs17285827	0.86[EUR][1000 genomes]
rs17286230	0.86[EUR][1000 genomes]
rs17290064	1.00[EUR][1000 genomes]
rs17310536	0.93[EUR][1000 genomes]
rs17311019	0.93[EUR][1000 genomes]
rs17311096	0.93[EUR][1000 genomes]
rs17359859	1.00[EUR][1000 genomes]
rs17360045	1.00[EUR][1000 genomes]
rs17360289	0.93[EUR][1000 genomes]
rs17369211	0.93[EUR][1000 genomes]
rs17369487	0.93[EUR][1000 genomes]
rs17370550	0.86[EUR][1000 genomes]
rs17371015	0.86[EUR][1000 genomes]
rs1833560	0.80[EUR][1000 genomes]
rs55684649	1.00[EUR][1000 genomes]
rs55771959	1.00[EUR][1000 genomes]
rs55798475	0.93[EUR][1000 genomes]
rs56052440	0.86[EUR][1000 genomes]
rs56194248	1.00[EUR][1000 genomes]
rs56218335	1.00[EUR][1000 genomes]
rs56235416	0.86[EUR][1000 genomes]
rs56320268	1.00[EUR][1000 genomes]
rs56321569	0.86[EUR][1000 genomes]
rs56328836	1.00[EUR][1000 genomes]
rs56405915	0.87[EUR][1000 genomes]
rs57043077	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60532731	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73216225	0.86[EUR][1000 genomes]
rs73220063	0.80[EUR][1000 genomes]
rs7704566	0.86[EUR][1000 genomes]
rs7728766	0.86[EUR][1000 genomes]
rs7730441	0.80[EUR][1000 genomes]
rs7730944	0.86[EUR][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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