Variant report

Variant	rs12319094
Chromosome Location	chr12:67748279-67748280
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:67661958..67663624-chr12:67746766..67749634,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000111530	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11176632	1.00[AMR][1000 genomes]
rs11176648	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11176649	1.00[AMR][1000 genomes]
rs12301230	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12301290	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12301392	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12301453	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12302524	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12305775	1.00[AMR][1000 genomes]
rs12312066	1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12312713	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12315232	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12322809	1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13377685	1.00[AMR][1000 genomes]
rs17854617	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2700056	1.00[AMR][1000 genomes]
rs2700061	1.00[AMR][1000 genomes]
rs2700063	1.00[AMR][1000 genomes]
rs28545106	1.00[AMR][1000 genomes]
rs28677001	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35314758	1.00[AMR][1000 genomes]
rs7298233	1.00[AMR][1000 genomes]
rs7967952	0.83[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7970098	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7976779	0.82[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9652023	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv559212	chr12:67373549-67850925	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv1054111	chr12:67556780-67865542	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:67733800-67761800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr12:67741800-67759200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr12:67747800-67749000	Enhancers	Left Ventricle	heart
4	chr12:67748000-67748400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr12:67748000-67748400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr12:67748000-67748400	Enhancers	Small Intestine	intestine
7	chr12:67748000-67748600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr12:67748000-67748600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr12:67748000-67748800	Weak transcription	Fetal Heart	heart
10	chr12:67748000-67748800	Flanking Active TSS	Osteobl	bone
11	chr12:67748000-67749000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
12	chr12:67748000-67750000	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr12:67748000-67750200	Enhancers	Fetal Lung	lung
14	chr12:67748000-67753600	Enhancers	Muscle Satellite Cultured Cells	--
15	chr12:67748000-67753800	Enhancers	HSMM	muscle
16	chr12:67748200-67748400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr12:67748200-67748400	Enhancers	Fetal Muscle Leg	muscle
18	chr12:67748200-67748400	Active TSS	Right Atrium	heart
19	chr12:67748200-67748400	Active TSS	Skeletal Muscle Female	skeletal muscle
20	chr12:67748200-67748600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr12:67748200-67748600	Enhancers	Fetal Kidney	kidney
22	chr12:67748200-67748600	Enhancers	Stomach Smooth Muscle	stomach
23	chr12:67748200-67748600	Enhancers	HSMMtube	muscle
24	chr12:67748200-67748800	Enhancers	Adipose Nuclei	Adipose
25	chr12:67748200-67749000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr12:67748200-67749000	Enhancers	Psoas Muscle	Psoas
27	chr12:67748200-67749800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr12:67748200-67750200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr12:67748200-67750200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr12:67748200-67750200	Enhancers	Primary T helper naive cells from peripheral blood	blood
31	chr12:67748200-67750200	Enhancers	NH-A	brain
32	chr12:67748200-67750400	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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