Variant report

Variant	rs60466490
Chromosome Location	chr12:120482878-120482879
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:120471763..120474758-chr12:120482350..120484738,2	K562	blood:
2	chr12:120482405..120482905-chr17:73873333..73873834,2	Hela-S3	cervix:
3	chr12:120481268..120483505-chr12:120486033..120487661,2	MCF-7	breast:
4	chr12:120482356..120484751-chr12:120492476..120494851,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000132481	Chromatin interaction
ENSG00000255575	Chromatin interaction
ENSG00000272464	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10128766	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10400498	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10400560	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10849731	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10849732	0.94[ASN][1000 genomes]
rs10849735	0.95[ASN][1000 genomes]
rs10849736	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11064987	0.97[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11064988	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11064996	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11065003	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11833221	0.91[ASN][1000 genomes]
rs12310269	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12310591	1.00[ASN][1000 genomes]
rs12313413	0.94[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12318774	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12320793	0.92[ASN][1000 genomes]
rs12322236	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12422923	1.00[ASN][1000 genomes]
rs16949901	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16949946	0.88[ASN][1000 genomes]
rs16949961	0.91[ASN][1000 genomes]
rs17841967	0.93[ASN][1000 genomes]
rs2239200	0.92[ASN][1000 genomes]
rs2239201	0.92[ASN][1000 genomes]
rs2239202	0.88[ASN][1000 genomes]
rs2239203	0.92[ASN][1000 genomes]
rs2239204	0.91[ASN][1000 genomes]
rs2283359	0.89[ASN][1000 genomes]
rs2283360	0.90[ASN][1000 genomes]
rs2286040	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28726166	0.94[ASN][1000 genomes]
rs3742042	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4105713	0.85[ASN][1000 genomes]
rs4767869	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4767871	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4767872	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4767875	1.00[ASN][1000 genomes]
rs4767876	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58272825	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59168361	0.94[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs6490281	0.85[ASN][1000 genomes]
rs7298183	0.94[ASN][1000 genomes]
rs7298727	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7300023	0.91[ASN][1000 genomes]
rs7312971	1.00[ASN][1000 genomes]
rs7397339	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7958402	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7958497	0.87[ASN][1000 genomes]
rs7965829	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7968557	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7978927	0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3525916	chr12:120345352-120665045	Bivalent Enhancer Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
2	esv3525917	chr12:120345352-120665045	Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
3	nsv899554	chr12:120389613-120513625	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120454200-120484800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr12:120479800-120485000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr12:120480000-120499200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr12:120480000-120499200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr12:120480200-120484400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr12:120480200-120484800	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr12:120480200-120485000	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr12:120480200-120485400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr12:120480800-120485200	Weak transcription	Primary T cells from cord blood	blood
10	chr12:120481600-120484800	Weak transcription	HepG2	liver
11	chr12:120481600-120485000	Weak transcription	NHEK	skin
12	chr12:120481600-120492200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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