Variant report

Variant	rs12679189
Chromosome Location	chr8:126473565-126473566
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:126472290..126473943-chr8:126475663..126477931,2	MCF-7	breast:
2	chr8:126448524..126451188-chr8:126472239..126475163,2	K562	blood:
3	chr8:126444504..126447051-chr8:126472147..126473761,2	MCF-7	breast:
4	chr8:126442462..126445143-chr8:126473068..126475374,2	K562	blood:

Variant related genes	Relation type
ENSG00000173334	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10956249	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12544593	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12544955	0.82[EUR][1000 genomes]
rs12545963	0.88[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.81[EUR][1000 genomes]
rs12547199	0.89[CEU][hapmap];0.82[EUR][1000 genomes]
rs12677676	0.89[CHB][hapmap];0.81[JPT][hapmap]
rs12678799	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12679184	0.81[EUR][1000 genomes]
rs12679547	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13258507	0.94[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.80[ASN][1000 genomes]
rs13265432	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13273254	0.87[EUR][1000 genomes]
rs17320616	0.94[CEU][hapmap];0.89[EUR][1000 genomes]
rs17406109	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2003370	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2003371	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34321324	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34417638	0.81[EUR][1000 genomes]
rs34447699	0.84[EUR][1000 genomes]
rs34604874	0.81[EUR][1000 genomes]
rs34843049	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4567057	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs4567059	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs4592055	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs4604455	0.82[CHB][hapmap]
rs6470355	0.94[CEU][hapmap];0.92[EUR][1000 genomes]
rs6470361	0.82[CHB][hapmap]
rs68089270	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6983834	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7015677	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs71516786	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7828194	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7828701	1.00[CHB][hapmap];0.90[JPT][hapmap];0.82[EUR][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:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126464800-126478000	Weak transcription	Gastric	stomach
2	chr8:126465200-126477800	Weak transcription	Fetal Heart	heart
3	chr8:126472400-126479000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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