Variant report

Variant	rs12679184
Chromosome Location	chr8:126487511-126487512
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:126467665..126470329-chr8:126485659..126488086,3	MCF-7	breast:
2	chr8:126487251..126488761-chr8:126508249..126510856,2	MCF-7	breast:
3	chr8:126441723..126444081-chr8:126487390..126489417,3	MCF-7	breast:
4	chr8:126439120..126443279-chr8:126483208..126489107,6	MCF-7	breast:
5	chr8:126487201..126489383-chr8:126491210..126493652,2	K562	blood:
6	chr8:126481379..126484101-chr8:126487149..126489863,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000173334	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs12544593	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12545963	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12674939	0.80[AMR][1000 genomes]
rs12677676	0.91[ASN][1000 genomes]
rs12678799	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12679189	0.81[EUR][1000 genomes]
rs12679547	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13258507	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13265432	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13271368	0.80[ASN][1000 genomes]
rs17406109	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2003370	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2003371	0.81[EUR][1000 genomes]
rs34087092	0.88[ASN][1000 genomes]
rs34321324	0.81[ASN][1000 genomes]
rs34417638	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34604874	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35309034	0.95[ASN][1000 genomes]
rs4567057	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4567059	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4592055	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4870941	0.85[ASN][1000 genomes]
rs55921265	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs68089270	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6983834	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7015677	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs71516786	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7828194	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7828701	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8180991	0.94[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891437	chr8:126470817-126629328	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126479400-126489200	Weak transcription	Pancreas	Pancrea
2	chr8:126483000-126489400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:126483000-126498200	Weak transcription	Right Atrium	heart
4	chr8:126483200-126487600	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr8:126483200-126489000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr8:126483200-126489400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr8:126483400-126496600	Weak transcription	Hela-S3	cervix
8	chr8:126485800-126487600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr8:126485800-126487600	Enhancers	HMEC	breast
10	chr8:126485800-126487600	Enhancers	NHEK	skin
11	chr8:126486000-126487600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr8:126486800-126487600	Weak transcription	Lung	lung
13	chr8:126487000-126488000	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr8:126487000-126488200	Enhancers	Adipose Nuclei	Adipose
15	chr8:126487000-126490000	Enhancers	Placenta	Placenta
16	chr8:126487200-126488000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr8:126487200-126492400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr8:126487400-126488000	Enhancers	Liver	Liver
19	chr8:126487400-126488000	Enhancers	Placenta Amnion	Placenta Amnion
20	chr8:126487400-126489600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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