Variant report

Variant	rs8113537
Chromosome Location	chr19:52771374-52771375
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:52771242..52774496-chr19:52796154..52801198,5	MCF-7	breast:
2	chr19:52771349..52773088-chr19:52900874..52902470,2	MCF-7	breast:
3	chr19:52771095..52772682-chr19:52804842..52807560,2	K562	blood:
4	chr19:52770114..52772064-chr19:52801000..52803944,2	MCF-7	breast:
5	chr19:52771362..52774263-chr19:52797982..52800693,2	K562	blood:
6	chr19:52765563..52767844-chr19:52770644..52772531,3	K562	blood:
7	chr19:52771196..52774040-chr19:52836837..52839956,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000269102	Chromatin interaction
ENSG00000167555	Chromatin interaction
ENSG00000269834	Chromatin interaction
ENSG00000167554	Chromatin interaction
ENSG00000198464	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10404635	0.86[CHB][hapmap];0.96[ASN][1000 genomes]
rs10425462	0.92[ASN][1000 genomes]
rs10425644	0.96[ASN][1000 genomes]
rs17835942	1.00[JPT][hapmap]
rs2089275	0.90[ASN][1000 genomes]
rs2560871	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2560873	0.85[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2560877	1.00[CHB][hapmap];0.92[ASN][1000 genomes]
rs2657923	0.90[ASN][1000 genomes]
rs2657924	1.00[CHB][hapmap];0.90[ASN][1000 genomes]
rs2657926	1.00[CHB][hapmap];0.90[ASN][1000 genomes]
rs2657930	1.00[CHB][hapmap];0.92[ASN][1000 genomes]
rs28718737	0.97[EUR][1000 genomes]
rs56211703	0.87[ASN][1000 genomes]
rs56369375	1.00[ASN][1000 genomes]
rs62110397	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62110398	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62110400	0.96[EUR][1000 genomes]
rs6509628	1.00[JPT][hapmap]
rs7255504	1.00[ASN][1000 genomes]
rs7255737	1.00[JPT][hapmap]
rs7256125	1.00[JPT][hapmap]
rs7256216	1.00[JPT][hapmap]
rs7256300	1.00[JPT][hapmap]
rs7256719	1.00[JPT][hapmap]
rs8107325	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9304726	0.85[CHB][hapmap];0.96[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	nsv1065410	chr19:52103914-52889530	Genic enhancers Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	596 gene(s)	inside rSNPs	diseases
2	esv3366000	chr19:52491073-52842946	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS 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 miRNA target site	48 gene(s)	inside rSNPs	diseases
3	nsv1066015	chr19:52502213-52890308	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv544059	chr19:52502213-52890308	Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:52758600-52772200	Weak transcription	Stomach Smooth Muscle	stomach
2	chr19:52763400-52772200	Weak transcription	Placenta	Placenta
3	chr19:52770000-52772200	Weak transcription	HepG2	liver
4	chr19:52770400-52772200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr19:52771000-52772000	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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