Variant report

Variant	rs7139220
Chromosome Location	chr12:120478767-120478768
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:120425546..120427435-chr12:120477512..120479258,2	MCF-7	breast:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1151821	1.00[EUR][1000 genomes]
rs1166789	1.00[EUR][1000 genomes]
rs1632619	1.00[EUR][1000 genomes]
rs56836390	1.00[EUR][1000 genomes]
rs58682372	1.00[EUR][1000 genomes]
rs59470045	1.00[EUR][1000 genomes]
rs59643776	1.00[EUR][1000 genomes]
rs60175203	1.00[EUR][1000 genomes]
rs7300790	1.00[EUR][1000 genomes]
rs73404500	1.00[EUR][1000 genomes]
rs73406722	1.00[EUR][1000 genomes]
rs73406751	1.00[EUR][1000 genomes]
rs73410812	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73410821	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73410841	1.00[EUR][1000 genomes]
rs7980464	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120454000-120478800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr12:120454200-120484800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr12:120454600-120479600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr12:120463600-120479000	Weak transcription	Primary T cells from cord blood	blood
5	chr12:120475800-120479200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr12:120476200-120479200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr12:120476200-120479200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr12:120476200-120479200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr12:120476200-120479200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr12:120476200-120479200	Weak transcription	HMEC	breast
11	chr12:120477200-120479000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr12:120477600-120479800	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr12:120477800-120479000	Enhancers	HepG2	liver
14	chr12:120477800-120479600	Enhancers	H1 Cell Line	embryonic stem cell
15	chr12:120478000-120479000	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr12:120478000-120479000	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr12:120478000-120479000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr12:120478000-120479000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr12:120478000-120480200	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr12:120478200-120480000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr12:120478200-120480200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr12:120478400-120479000	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr12:120478400-120480000	Enhancers	Primary T cells fromperipheralblood	blood
24	chr12:120478600-120479400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
25	chr12:120478600-120479800	Enhancers	H9 Cell Line	embryonic stem cell
26	chr12:120478600-120479800	Enhancers	Primary T helper naive cells from peripheral blood	blood
27	chr12:120478600-120480400	Enhancers	Stomach Mucosa	stomach

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