Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:124762298..124765982-chr8:124768929..124771598,3	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10099401	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10429369	0.89[ASN][1000 genomes]
rs11785018	0.91[ASN][1000 genomes]
rs12334564	0.95[CEU][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12541177	0.80[AMR][1000 genomes]
rs12550235	0.83[CHB][hapmap];0.84[JPT][hapmap]
rs12682209	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13270541	0.80[AMR][1000 genomes]
rs13275308	0.83[CHB][hapmap];0.84[JPT][hapmap]
rs13278192	0.84[ASN][1000 genomes]
rs1367829	0.80[AMR][1000 genomes]
rs1835691	0.89[ASN][1000 genomes]
rs34253744	0.91[ASN][1000 genomes]
rs34354351	0.86[ASN][1000 genomes]
rs34850344	0.90[ASN][1000 genomes]
rs4870867	0.89[ASN][1000 genomes]
rs6986269	0.82[CHB][hapmap]
rs6990565	0.80[AMR][1000 genomes]
rs7004482	0.83[CHB][hapmap]
rs7014688	0.82[CHB][hapmap];0.94[CHD][hapmap];0.89[JPT][hapmap];0.89[ASN][1000 genomes]
rs7015861	0.80[AMR][1000 genomes]
rs7017174	0.84[ASN][1000 genomes]
rs73333742	0.83[ASN][1000 genomes]
rs9297674	0.87[ASN][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	nsv831451	chr8:124710946-124885148	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv6373	chr8:124741567-124786609	Active TSS Genic enhancers Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Pancreatic cancer	20686608	GWAS catalog

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124760400-124766400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr8:124762000-124766400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr8:124762200-124775600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr8:124763200-124766400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr8:124763400-124766600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr8:124764800-124766400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr8:124765600-124768000	ZNF genes & repeats	Fetal Intestine Small	intestine

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