Variant report

Variant	rs12822509
Chromosome Location	chr12:51439665-51439666
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:51437841..51440203-chr12:51442287..51444498,2	K562	blood:
2	chr12:51414500..51424231-chr12:51435741..51444321,19	K562	blood:
3	chr12:51418602..51423346-chr12:51439309..51444851,15	MCF-7	breast:
4	chr12:51439067..51445190-chr12:51449547..51456560,11	K562	blood:
5	chr12:51438469..51440828-chr12:51713413..51715859,2	K562	blood:
6	chr12:51319328..51321939-chr12:51438898..51441573,2	K562	blood:

Variant related genes	Relation type
ENSG00000050426	Chromatin interaction
ENSG00000110911	Chromatin interaction

Extended variants
information (count: 109 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:107)

rs_ID	r²[population]
rs1005559	0.87[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	0.83[EUR][1000 genomes]
rs11169633	0.82[EUR][1000 genomes]
rs11169636	0.82[EUR][1000 genomes]
rs11169637	0.82[EUR][1000 genomes]
rs11169639	0.80[EUR][1000 genomes]
rs11169641	0.82[EUR][1000 genomes]
rs11169642	0.82[EUR][1000 genomes]
rs11169644	0.82[EUR][1000 genomes]
rs11169647	0.82[EUR][1000 genomes]
rs11169648	0.82[EUR][1000 genomes]
rs11169649	0.82[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	0.83[EUR][1000 genomes]
rs11169682	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169712	0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11519977	0.82[EUR][1000 genomes]
rs11831810	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11831946	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11833022	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11834746	0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12366476	0.82[EUR][1000 genomes]
rs12366756	0.83[EUR][1000 genomes]
rs12370820	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12371463	0.84[EUR][1000 genomes]
rs12372173	0.87[EUR][1000 genomes]
rs12809563	0.82[EUR][1000 genomes]
rs12810174	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12810455	0.87[EUR][1000 genomes]
rs12810596	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12810659	0.83[EUR][1000 genomes]
rs12810700	0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12811508	0.87[EUR][1000 genomes]
rs12811658	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12811684	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12812650	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12813309	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12813368	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12813728	0.83[EUR][1000 genomes]
rs12814498	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12817386	0.83[EUR][1000 genomes]
rs12818033	0.82[EUR][1000 genomes]
rs12819225	0.87[EUR][1000 genomes]
rs12819517	0.88[EUR][1000 genomes]
rs12820074	0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12820966	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12821444	0.82[EUR][1000 genomes]
rs12823402	0.85[EUR][1000 genomes]
rs12824225	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12826153	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12827861	0.83[EUR][1000 genomes]
rs12828349	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12828536	0.87[EUR][1000 genomes]
rs12829630	0.87[EUR][1000 genomes]
rs12830048	0.82[EUR][1000 genomes]
rs12830073	0.87[EUR][1000 genomes]
rs12830422	0.80[EUR][1000 genomes]
rs12831269	0.83[EUR][1000 genomes]
rs12833565	0.87[EUR][1000 genomes]
rs15897	0.83[EUR][1000 genomes]
rs17125137	0.82[EUR][1000 genomes]
rs17296192	0.85[EUR][1000 genomes]
rs2285228	0.83[EUR][1000 genomes]
rs2285230	0.83[EUR][1000 genomes]
rs2301529	0.83[EUR][1000 genomes]
rs34057357	0.83[EUR][1000 genomes]
rs34481246	0.87[EUR][1000 genomes]
rs34735738	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35037088	0.82[EUR][1000 genomes]
rs4768964	0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4768967	0.97[EUR][1000 genomes]
rs6580784	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6580792	0.87[EUR][1000 genomes]
rs6580793	0.87[EUR][1000 genomes]
rs67133203	0.85[EUR][1000 genomes]
rs67259551	0.83[EUR][1000 genomes]
rs67260912	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs67293043	0.87[EUR][1000 genomes]
rs7135059	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71445772	0.82[EUR][1000 genomes]
rs7305638	0.82[EUR][1000 genomes]
rs7306293	0.82[EUR][1000 genomes]
rs73090655	0.80[EUR][1000 genomes]
rs7954140	0.98[EUR][1000 genomes]
rs7959075	0.82[EUR][1000 genomes]
rs7959082	0.82[EUR][1000 genomes]
rs7960381	0.84[EUR][1000 genomes]
rs7964570	0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7972406	0.87[EUR][1000 genomes]
rs7975147	0.87[EUR][1000 genomes]
rs7976777	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7978723	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7980874	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs970098	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs970099	0.88[AMR][1000 genomes];0.99[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:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51435600-51440800	Weak transcription	HepG2	liver
2	chr12:51436600-51440800	Weak transcription	Brain Hippocampus Middle	brain
3	chr12:51437600-51441000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr12:51437800-51440800	Weak transcription	Hela-S3	cervix
5	chr12:51438600-51441400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr12:51439600-51440800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr12:51439600-51441000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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