Variant report

Variant	rs12674772
Chromosome Location	chr8:119517222-119517223
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	chr8:119506168..119508828-chr8:119515870..119518341,2	MCF-7	breast:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs12682339	0.96[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs34696241	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4129893	0.88[CHB][hapmap];0.92[JPT][hapmap];0.93[ASN][1000 genomes]
rs4242582	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4242583	0.89[ASN][1000 genomes]
rs4242585	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4421377	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.92[MKK][hapmap];0.85[YRI][hapmap];0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4551393	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.82[MKK][hapmap];0.85[YRI][hapmap];1.00[ASN][1000 genomes]
rs4557731	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap]
rs4876851	0.96[ASN][1000 genomes]
rs4876852	0.92[JPT][hapmap];0.80[MEX][hapmap]
rs56078225	0.96[ASN][1000 genomes]
rs56151246	1.00[ASN][1000 genomes]
rs56306005	1.00[ASN][1000 genomes]
rs62531882	0.93[ASN][1000 genomes]
rs62531887	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7015005	0.92[JPT][hapmap]

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	nsv1032681	chr8:119153316-119609948	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv539737	chr8:119153316-119609948	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv831443	chr8:119390590-119590662	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119502000-119522400	Weak transcription	Pancreas	Pancrea
2	chr8:119504800-119517800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr8:119507600-119518600	Weak transcription	Fetal Lung	lung
4	chr8:119516400-119518000	Enhancers	HSMM	muscle
5	chr8:119516600-119517400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr8:119516600-119517800	Enhancers	HSMMtube	muscle
7	chr8:119516600-119518200	Flanking Active TSS	GM12878-XiMat	blood
8	chr8:119516800-119518000	Enhancers	Duodenum Mucosa	Duodenum
9	chr8:119516800-119518400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr8:119516800-119520000	Enhancers	Stomach Mucosa	stomach
11	chr8:119517000-119518000	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr8:119517000-119518000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr8:119517000-119518000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr8:119517000-119518000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr8:119517000-119518000	Enhancers	Primary B cells from peripheral blood	blood
16	chr8:119517000-119518000	Enhancers	Muscle Satellite Cultured Cells	--
17	chr8:119517000-119518000	Enhancers	NH-A	brain
18	chr8:119517000-119518000	Enhancers	NHDF-Ad	bronchial
19	chr8:119517000-119518000	Enhancers	Osteobl	bone
20	chr8:119517000-119519200	Enhancers	NHLF	lung
21	chr8:119517000-119520200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr8:119517000-119522800	Enhancers	HMEC	breast
23	chr8:119517200-119517400	Enhancers	Brain Angular Gyrus	brain
24	chr8:119517200-119517600	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr8:119517200-119517800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr8:119517200-119517800	Enhancers	Brain Substantia Nigra	brain
27	chr8:119517200-119518000	Enhancers	H9 Cell Line	embryonic stem cell
28	chr8:119517200-119518000	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr8:119517200-119518000	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr8:119517200-119518000	Flanking Active TSS	Liver	Liver
31	chr8:119517200-119519200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr8:119517200-119520400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr8:119517200-119522800	Enhancers	NHEK	skin

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