Variant report

Variant	rs73057289
Chromosome Location	chr2:205453060-205453061
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	chr2:205408467..205411274-chr2:205452448..205455443,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000116117	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10203725	0.99[ASN][1000 genomes]
rs10932076	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11883548	0.90[ASN][1000 genomes]
rs11885318	0.96[AFR][1000 genomes]
rs11887897	0.83[ASN][1000 genomes]
rs11890980	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11892599	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs11901243	0.85[ASN][1000 genomes]
rs11903539	0.84[ASN][1000 genomes]
rs11904034	0.91[ASN][1000 genomes]
rs11904833	0.99[ASN][1000 genomes]
rs12052242	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs13412566	0.93[ASN][1000 genomes]
rs13414039	0.99[ASN][1000 genomes]
rs16836406	0.83[ASN][1000 genomes]
rs16836425	0.89[ASN][1000 genomes]
rs55775811	0.83[ASN][1000 genomes]
rs55970367	0.98[AFR][1000 genomes]
rs56310794	0.83[ASN][1000 genomes]
rs57533510	0.87[ASN][1000 genomes]
rs57675666	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs57940164	0.92[AFR][1000 genomes]
rs59113157	0.92[AFR][1000 genomes]
rs59978061	0.82[ASN][1000 genomes]
rs60179096	0.87[ASN][1000 genomes]
rs60317037	0.89[ASN][1000 genomes]
rs61049352	0.92[AFR][1000 genomes]
rs61084963	0.96[AFR][1000 genomes]
rs61280844	0.93[ASN][1000 genomes]
rs6731832	0.83[ASN][1000 genomes]
rs6743282	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs73057273	0.96[AFR][1000 genomes]
rs73057275	0.94[ASN][1000 genomes]
rs73057279	0.99[ASN][1000 genomes]
rs73059006	0.87[ASN][1000 genomes]
rs73059007	0.87[ASN][1000 genomes]
rs73059010	0.87[ASN][1000 genomes]
rs73059013	0.81[ASN][1000 genomes]
rs73059018	0.83[ASN][1000 genomes]
rs73059031	0.85[ASN][1000 genomes]
rs73984233	0.85[AFR][1000 genomes]
rs73984241	0.99[ASN][1000 genomes]
rs73984246	0.87[ASN][1000 genomes]
rs73984251	0.85[ASN][1000 genomes]
rs73984252	0.85[ASN][1000 genomes]
rs73984257	0.87[ASN][1000 genomes]
rs73984258	0.87[ASN][1000 genomes]
rs7557006	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7575842	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7577949	0.85[ASN][1000 genomes]
rs9752333	0.87[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv964353	chr2:205303005-205473935	Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv998485	chr2:205407813-206184006	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv536122	chr2:205407813-206184006	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 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	chr2:205425800-205454400	Weak transcription	HSMM	muscle
2	chr2:205438800-205458000	Weak transcription	Gastric	stomach
3	chr2:205441000-205454600	Weak transcription	Psoas Muscle	Psoas
4	chr2:205446800-205456200	Weak transcription	Brain Anterior Caudate	brain
5	chr2:205447200-205454200	Weak transcription	Ovary	ovary
6	chr2:205452800-205453200	Enhancers	HUES48 Cell Line	embryonic stem cell

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