Variant report

Variant	rs11065068
Chromosome Location	chr12:120724642-120724643
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:120622258..120624752-chr12:120723863..120725519,2	MCF-7	breast:
2	chr12:120548888..120559202-chr12:120724492..120734002,35	MCF-7	breast:
3	chr12:120657004..120683911-chr12:120723753..120737731,232	K562	blood:
4	chr12:120690051..120707499-chr12:120720410..120732530,91	MCF-7	breast:
5	chr12:120656223..120689871-chr12:120720394..120738112,311	MCF-7	breast:
6	chr12:120665936..120666890-chr12:120724387..120725316,2	MCF-7	breast:
7	chr12:120642171..120684465-chr12:120719749..120734210,267	K562	blood:
8	chr12:120626707..120642605-chr12:120719450..120732919,96	MCF-7	breast:
9	chr12:120523464..120525558-chr12:120724032..120726437,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000240925	Chromatin interaction
ENSG00000089157	Chromatin interaction
ENSG00000255857	Chromatin interaction
ENSG00000111737	Chromatin interaction
ENSG00000089154	Chromatin interaction
ENSG00000089159	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1179368	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1179369	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11833138	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12297878	1.00[CEU][hapmap];0.85[YRI][hapmap];0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12314405	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17507671	1.00[CEU][hapmap];0.81[YRI][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2696026	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899555	chr12:120519124-120840522	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	499 gene(s)	inside rSNPs	diseases
2	nsv832530	chr12:120586069-120758175	Flanking Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Active TSS Bivalent/Poised 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	484 gene(s)	inside rSNPs	diseases
3	nsv1035698	chr12:120645330-120777580	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	436 gene(s)	inside rSNPs	diseases
4	nsv1047447	chr12:120645330-120808621	Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	436 gene(s)	inside rSNPs	diseases
5	nsv560435	chr12:120695141-120769657	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	433 gene(s)	inside rSNPs	diseases
6	nsv899556	chr12:120695141-120779931	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	433 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120716800-120728600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr12:120717400-120728600	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr12:120720400-120725000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr12:120721600-120728600	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr12:120723800-120725200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr12:120724000-120725600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr12:120724000-120725600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr12:120724000-120725600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr12:120724200-120725000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr12:120724200-120725200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr12:120724400-120725400	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr12:120724400-120725600	Enhancers	Fetal Muscle Leg	muscle
13	chr12:120724400-120728400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr12:120724400-120728400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr12:120724600-120724800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr12:120724600-120724800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr12:120724600-120724800	Flanking Active TSS	Placenta	Placenta
18	chr12:120724600-120725000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr12:120724600-120725000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr12:120724600-120725000	Enhancers	Fetal Heart	heart
21	chr12:120724600-120725000	Enhancers	A549	lung
22	chr12:120724600-120725000	Enhancers	HepG2	liver
23	chr12:120724600-120725000	Enhancers	NH-A	brain
24	chr12:120724600-120725200	Enhancers	HMEC	breast
25	chr12:120724600-120725400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr12:120724600-120725600	Enhancers	NHEK	skin

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