Variant report

Variant	rs58416991
Chromosome Location	chr5:42529114-42529115
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:42524054..42526820-chr5:42527657..42530320,2	K562	blood:
2	chr5:42522021..42523658-chr5:42528287..42530323,2	MCF-7	breast:

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10755268	1.00[ASN][1000 genomes]
rs11742495	1.00[ASN][1000 genomes]
rs11747975	1.00[ASN][1000 genomes]
rs11748366	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11957616	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13162973	1.00[ASN][1000 genomes]
rs1396773	1.00[ASN][1000 genomes]
rs1467049	1.00[ASN][1000 genomes]
rs1509452	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1509453	1.00[ASN][1000 genomes]
rs1567374	1.00[ASN][1000 genomes]
rs1858137	1.00[ASN][1000 genomes]
rs1858139	1.00[ASN][1000 genomes]
rs1876788	1.00[ASN][1000 genomes]
rs1912107	1.00[ASN][1000 genomes]
rs2175126	1.00[ASN][1000 genomes]
rs2940916	1.00[ASN][1000 genomes]
rs2940920	1.00[ASN][1000 genomes]
rs2940926	1.00[ASN][1000 genomes]
rs2940929	1.00[ASN][1000 genomes]
rs2940931	1.00[ASN][1000 genomes]
rs2940935	1.00[ASN][1000 genomes]
rs2940942	1.00[ASN][1000 genomes]
rs2940943	1.00[ASN][1000 genomes]
rs2972391	1.00[ASN][1000 genomes]
rs2972395	1.00[ASN][1000 genomes]
rs2972400	1.00[ASN][1000 genomes]
rs2972404	1.00[ASN][1000 genomes]
rs2972415	1.00[ASN][1000 genomes]
rs2972417	1.00[ASN][1000 genomes]
rs2972419	1.00[ASN][1000 genomes]
rs34509769	1.00[ASN][1000 genomes]
rs4642376	1.00[ASN][1000 genomes]
rs4866890	1.00[ASN][1000 genomes]
rs58960035	1.00[ASN][1000 genomes]
rs60126365	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61636452	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62370642	1.00[ASN][1000 genomes]
rs62370646	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62370648	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6451614	1.00[ASN][1000 genomes]
rs6876736	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6881436	1.00[ASN][1000 genomes]
rs6884737	1.00[ASN][1000 genomes]
rs7379192	1.00[ASN][1000 genomes]
rs7704355	1.00[ASN][1000 genomes]
rs7728337	1.00[ASN][1000 genomes]
rs9686286	1.00[ASN][1000 genomes]
rs974051	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933208	chr5:41879946-42876624	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	112 gene(s)	inside rSNPs	diseases
2	nsv492147	chr5:41902086-42896162	Enhancers Flanking Active TSS Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	113 gene(s)	inside rSNPs	diseases
3	nsv1020464	chr5:42488628-42699394	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1018751	chr5:42491883-42697923	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 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	chr5:42522400-42532000	Weak transcription	Liver	Liver
2	chr5:42525000-42531800	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr5:42525400-42531800	Weak transcription	Psoas Muscle	Psoas
4	chr5:42529000-42529800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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