Variant report

Variant	rs12813309
Chromosome Location	chr12:51436139-51436140
allele	A/G
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:

Variant related genes	Relation type
ENSG00000110911	Chromatin interaction

Extended variants
information (count: 106 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:104)

rs_ID	r²[population]
rs1005559	0.86[EUR][1000 genomes]
rs1038525	0.95[ASN][1000 genomes]
rs1048230	0.83[EUR][1000 genomes]
rs10506298	0.83[EUR][1000 genomes]
rs10506299	0.83[EUR][1000 genomes]
rs10747602	0.95[ASN][1000 genomes]
rs10747604	0.84[EUR][1000 genomes]
rs11169633	0.81[EUR][1000 genomes]
rs11169636	0.81[EUR][1000 genomes]
rs11169637	0.81[EUR][1000 genomes]
rs11169641	0.81[EUR][1000 genomes]
rs11169642	0.81[EUR][1000 genomes]
rs11169644	0.81[EUR][1000 genomes]
rs11169647	0.81[EUR][1000 genomes]
rs11169648	0.81[EUR][1000 genomes]
rs11169649	0.81[EUR][1000 genomes]
rs11169652	0.83[EUR][1000 genomes]
rs11169654	0.83[EUR][1000 genomes]
rs11169655	0.83[EUR][1000 genomes]
rs11169661	0.83[EUR][1000 genomes]
rs11169667	0.83[EUR][1000 genomes]
rs11169669	0.83[EUR][1000 genomes]
rs11169670	0.83[EUR][1000 genomes]
rs11169671	0.83[EUR][1000 genomes]
rs11169672	0.82[EUR][1000 genomes]
rs11169682	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169712	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11519977	0.81[EUR][1000 genomes]
rs11831810	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11831946	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11833022	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11834746	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12366476	0.81[EUR][1000 genomes]
rs12366756	0.83[EUR][1000 genomes]
rs12370820	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12371463	0.84[EUR][1000 genomes]
rs12372173	0.86[EUR][1000 genomes]
rs12809563	0.81[EUR][1000 genomes]
rs12810174	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12810455	0.84[EUR][1000 genomes]
rs12810596	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12810659	0.83[EUR][1000 genomes]
rs12810700	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12811508	0.84[EUR][1000 genomes]
rs12811658	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12811684	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12812650	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12813368	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12813728	0.82[EUR][1000 genomes]
rs12814498	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12817386	0.83[EUR][1000 genomes]
rs12818033	0.81[EUR][1000 genomes]
rs12819225	0.84[EUR][1000 genomes]
rs12819517	0.85[EUR][1000 genomes]
rs12820074	0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12820966	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12821444	0.81[EUR][1000 genomes]
rs12822509	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12823402	0.83[EUR][1000 genomes]
rs12824225	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12826153	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12827861	0.83[EUR][1000 genomes]
rs12828349	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12828536	0.86[EUR][1000 genomes]
rs12829630	0.84[EUR][1000 genomes]
rs12830048	0.81[EUR][1000 genomes]
rs12830073	0.86[EUR][1000 genomes]
rs12831269	0.83[EUR][1000 genomes]
rs12833565	0.84[EUR][1000 genomes]
rs15897	0.83[EUR][1000 genomes]
rs17125137	0.81[EUR][1000 genomes]
rs17296192	0.83[EUR][1000 genomes]
rs2285228	0.83[EUR][1000 genomes]
rs2285230	0.83[EUR][1000 genomes]
rs2301529	0.83[EUR][1000 genomes]
rs34057357	0.81[EUR][1000 genomes]
rs34481246	0.84[EUR][1000 genomes]
rs34735738	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35037088	0.81[EUR][1000 genomes]
rs4768964	0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4768967	0.94[EUR][1000 genomes]
rs6580784	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6580792	0.84[EUR][1000 genomes]
rs6580793	0.84[EUR][1000 genomes]
rs67133203	0.84[EUR][1000 genomes]
rs67259551	0.83[EUR][1000 genomes]
rs67260912	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs67293043	0.84[EUR][1000 genomes]
rs7135059	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71445772	0.81[EUR][1000 genomes]
rs7305638	0.81[EUR][1000 genomes]
rs7306293	0.81[EUR][1000 genomes]
rs7954140	0.96[EUR][1000 genomes]
rs7959075	0.81[EUR][1000 genomes]
rs7959082	0.81[EUR][1000 genomes]
rs7960381	0.82[EUR][1000 genomes]
rs7964570	0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7972406	0.86[EUR][1000 genomes]
rs7975147	0.86[EUR][1000 genomes]
rs7976777	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7978723	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7980874	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs970098	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs970099	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][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:2 , 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

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