Variant report

Variant	rs58343549
Chromosome Location	chr12:51437028-51437029
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	chr12:51414500..51424231-chr12:51435741..51444321,19	K562	blood:
2	chr12:51436489..51438645-chr12:51475982..51478234,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000110911	Chromatin interaction
ENSG00000110925	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs11169614	1.00[AMR][1000 genomes]
rs11835513	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17125085	1.00[AMR][1000 genomes]
rs17125212	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17125227	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17125245	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56809906	1.00[AMR][1000 genomes]
rs56840343	1.00[AMR][1000 genomes]
rs56883422	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56979742	1.00[AMR][1000 genomes]
rs58493263	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60089061	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60610335	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60720958	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60886362	0.90[AFR][1000 genomes]
rs61550892	1.00[AMR][1000 genomes]
rs7137990	1.00[AMR][1000 genomes]
rs7303962	1.00[AMR][1000 genomes]
rs7309789	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7312269	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73296205	1.00[AMR][1000 genomes]
rs73297927	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73297940	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73297966	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73298000	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73300041	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73308073	1.00[AMR][1000 genomes]
rs73308091	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73308094	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73308096	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73310009	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73310019	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73310024	1.00[AMR][1000 genomes]
rs73311252	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3414501	chr12:51174503-51534707	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	esv34039	chr12:51326702-51671911	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51435600-51440800	Weak transcription	HepG2	liver
2	chr12:51436000-51437400	Weak transcription	Hela-S3	cervix
3	chr12:51436600-51440800	Weak transcription	Brain Hippocampus Middle	brain

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