Variant report

Variant	rs12679126
Chromosome Location	chr8:20237726-20237727
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	chr8:20237063..20238741-chr8:20241384..20243460,2	MCF-7	breast:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs12674725	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12676527	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12677988	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12678393	0.96[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12678584	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12679606	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12680904	0.93[YRI][hapmap];0.87[AFR][1000 genomes]
rs12681762	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17092261	0.89[AFR][1000 genomes]
rs17092264	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17092273	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17092286	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17092289	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17092302	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17092307	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17092313	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17092316	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17092317	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17092318	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17092321	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17092324	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17092331	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17092333	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17092335	0.96[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs17092342	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17092343	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2086882	0.89[ASN][1000 genomes]
rs2086883	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57266128	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs59651278	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs60034868	0.90[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs60236973	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6989224	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7825428	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7838039	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033511	chr8:19751299-20625091	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv530877	chr8:19873053-20593254	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv831256	chr8:20162233-20300224	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	esv2758152	chr8:20228949-20514807	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	esv2759603	chr8:20228949-20514807	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:20232400-20242600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:20233200-20239000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr8:20233400-20238400	Enhancers	HSMM	muscle
4	chr8:20234200-20239000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr8:20234200-20239400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr8:20234800-20239400	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr8:20235400-20238600	Enhancers	HSMMtube	muscle
8	chr8:20235800-20238200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr8:20236600-20245600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr8:20236800-20238000	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr8:20236800-20238200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr8:20236800-20239000	Weak transcription	HMEC	breast
13	chr8:20236800-20239200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr8:20236800-20239400	Weak transcription	NH-A	brain
15	chr8:20236800-20239800	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr8:20237000-20238000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr8:20237000-20239000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr8:20237000-20239400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr8:20237000-20240600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr8:20237200-20238400	Enhancers	NHDF-Ad	bronchial
21	chr8:20237400-20238800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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