Variant report

Variant	rs12809832
Chromosome Location	chr12:51569260-51569261
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:51568437..51570168-chr12:51571133..51573432,2	K562	blood:
2	chr12:51564447..51569582-chr12:51630930..51635335,8	K562	blood:
3	chr12:51475324..51477948-chr12:51566462..51569488,3	MCF-7	breast:
4	chr12:51567118..51569511-chr12:51775066..51777946,2	K562	blood:
5	chr12:51564257..51569582-chr12:51630930..51636873,13	K562	blood:

Variant related genes	Relation type
ENSG00000183283	Chromatin interaction
ENSG00000110925	Chromatin interaction
ENSG00000139629	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs1056897	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11169726	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11169727	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11169729	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11169731	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11169732	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11169736	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11169742	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11169743	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11169752	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11169754	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11738	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12810455	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12810596	0.84[AMR][1000 genomes]
rs12810700	0.88[AMR][1000 genomes]
rs12811508	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12813368	0.82[AMR][1000 genomes]
rs12814498	0.88[AMR][1000 genomes]
rs12819225	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12819517	0.92[AMR][1000 genomes]
rs12820559	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12820966	0.82[AMR][1000 genomes]
rs12823402	0.84[AMR][1000 genomes]
rs12826153	0.82[AMR][1000 genomes]
rs12829630	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12833565	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17296192	0.92[AMR][1000 genomes]
rs34057357	0.84[AMR][1000 genomes]
rs34481246	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs34498074	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6580792	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6580793	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs67293043	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7958064	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7960381	0.84[AMR][1000 genomes]
rs7964570	0.88[AMR][1000 genomes]
rs7976777	0.84[AMR][1000 genomes]
rs7977104	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs970098	0.82[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51567400-51577200	Weak transcription	Fetal Kidney	kidney
2	chr12:51567400-51583400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:51567400-51584000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr12:51567400-51610600	Weak transcription	Right Atrium	heart

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