Variant report

Variant	rs11065004
Chromosome Location	chr12:120492026-120492027
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:120425499..120429715-chr12:120491495..120494427,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000135127	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10744747	0.93[ASN][1000 genomes]
rs10849732	0.81[EUR][1000 genomes]
rs10849735	0.81[EUR][1000 genomes]
rs11064986	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11064998	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11065014	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11065017	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11065018	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12310591	0.83[EUR][1000 genomes]
rs12311327	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12320072	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12422923	0.85[EUR][1000 genomes]
rs2240311	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2393570	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2893812	0.93[ASN][1000 genomes]
rs3742044	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3759399	0.87[ASN][1000 genomes]
rs3852586	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3852588	0.85[ASN][1000 genomes]
rs3886910	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3999575	0.86[ASN][1000 genomes]
rs4105713	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4351876	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4767870	0.94[ASN][1000 genomes]
rs4767873	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4767875	0.83[EUR][1000 genomes]
rs6490278	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6490280	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6490281	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6490283	0.83[ASN][1000 genomes]
rs6490284	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7295717	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7298183	0.81[EUR][1000 genomes]
rs7302874	0.95[ASN][1000 genomes]
rs7305625	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7306739	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7312811	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7312971	0.83[EUR][1000 genomes]
rs7314959	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7956436	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7958497	0.82[ASN][1000 genomes]
rs7960725	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7961738	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7962812	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7971249	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7977281	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7978927	0.83[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:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120480000-120499200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr12:120480000-120499200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr12:120481600-120492200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:120486400-120498600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr12:120486600-120498600	Weak transcription	Gastric	stomach
6	chr12:120486600-120499200	Weak transcription	Thymus	Thymus
7	chr12:120486800-120512000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr12:120487000-120499400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr12:120487000-120502400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr12:120487000-120502400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr12:120487200-120499400	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr12:120487200-120499800	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr12:120487400-120498200	Weak transcription	Primary T cells from cord blood	blood
14	chr12:120487800-120512200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr12:120488000-120498000	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr12:120492000-120495000	Enhancers	Hela-S3	cervix

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