Variant report

Variant	rs11064998
Chromosome Location	chr12:120459684-120459685
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	chr12:120453830..120455400-chr12:120458057..120460330,2	MCF-7	breast:

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10744747	0.97[ASN][1000 genomes]
rs10849732	0.83[EUR][1000 genomes]
rs10849735	0.83[EUR][1000 genomes]
rs11064986	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11065004	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11065014	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11065017	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11065018	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12310591	0.85[EUR][1000 genomes]
rs12311327	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12320072	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12422923	0.83[EUR][1000 genomes]
rs2240311	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2393570	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2893812	0.98[ASN][1000 genomes]
rs3742044	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3759399	0.82[ASN][1000 genomes]
rs3852586	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3852588	0.81[ASN][1000 genomes]
rs3886910	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3999575	0.81[ASN][1000 genomes]
rs4105713	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4351876	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4767870	0.99[ASN][1000 genomes]
rs4767873	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4767875	0.82[EUR][1000 genomes]
rs6490278	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6490280	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6490281	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6490283	0.82[EUR][1000 genomes]
rs6490284	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7295717	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7298183	0.83[EUR][1000 genomes]
rs7302874	0.99[ASN][1000 genomes]
rs7305625	0.88[EUR][1000 genomes]
rs7306739	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7312811	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7312971	0.85[EUR][1000 genomes]
rs7314959	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7956436	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7960725	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7961738	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7962812	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7971249	0.89[EUR][1000 genomes]
rs7977281	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7978927	0.85[EUR][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:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120437800-120462400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr12:120452000-120465000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr12:120452200-120475200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:120453000-120467600	Weak transcription	Hela-S3	cervix
5	chr12:120453200-120463200	Weak transcription	Thymus	Thymus
6	chr12:120454000-120478800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr12:120454200-120468200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr12:120454200-120477800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr12:120454200-120478400	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr12:120454200-120484800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr12:120454400-120471400	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr12:120454600-120462000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr12:120454600-120470000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr12:120454600-120479600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr12:120456200-120465800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr12:120456400-120461600	Weak transcription	Primary T cells from cord blood	blood
17	chr12:120458200-120460800	Weak transcription	Primary T helper cells PMA-I stimulated	--

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