Variant report

Variant	rs12307887
Chromosome Location	chr12:120474110-120474111
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:120472651..120475329-chr12:120480082..120481970,2	MCF-7	breast:
2	chr12:120462029..120464430-chr12:120473662..120476125,2	MCF-7	breast:
3	chr12:120472769..120475682-chr12:120637462..120640368,2	K562	blood:
4	chr12:120472729..120475362-chr12:120515779..120517962,2	MCF-7	breast:
5	chr12:120462600..120465002-chr12:120472760..120475274,2	MCF-7	breast:
6	chr12:120471763..120474758-chr12:120482350..120484738,2	K562	blood:

Variant related genes	Relation type
ENSG00000089157	Chromatin interaction
ENSG00000255857	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10161261	0.81[ASW][hapmap];0.85[CEU][hapmap];1.00[GIH][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];0.84[TSI][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10849733	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10849734	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11064985	1.00[CEU][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11064990	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11064995	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11064997	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11065005	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11065010	0.86[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11065019	0.81[ASW][hapmap];0.85[CEU][hapmap];1.00[GIH][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];0.92[TSI][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11065024	0.85[CEU][hapmap];1.00[GIH][hapmap];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12298267	1.00[CEU][hapmap]
rs12312294	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12313412	0.85[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12314638	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12316670	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12321330	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12425507	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13377680	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs59709506	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61748076	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7139151	0.85[CEU][hapmap]
rs7294975	0.82[CEU][hapmap]
rs7300507	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7307905	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73410866	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73410877	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7953284	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7953368	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7957793	0.81[ASW][hapmap];0.85[CEU][hapmap];1.00[GIH][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];0.92[TSI][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7964192	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7964299	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7964301	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7970773	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7970908	1.00[GIH][hapmap];0.84[LWK][hapmap]
rs7974285	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];0.92[TSI][hapmap];0.90[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[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:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120452200-120475200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:120454000-120478800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr12:120454200-120477800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr12:120454200-120478400	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr12:120454200-120484800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr12:120454600-120479600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr12:120462400-120478600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr12:120463600-120479000	Weak transcription	Primary T cells from cord blood	blood
9	chr12:120472200-120475600	Weak transcription	HMEC	breast
10	chr12:120472800-120478000	Weak transcription	Primary T helper cells PMA-I stimulated	--

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