Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:168757209..168759162-chr1:168761881..168763632,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1008483	0.82[ASN][1000 genomes]
rs10918994	0.80[ASN][1000 genomes]
rs11582358	0.93[ASN][1000 genomes]
rs11583049	0.93[ASN][1000 genomes]
rs12034858	0.81[ASN][1000 genomes]
rs12059023	0.82[ASN][1000 genomes]
rs12067471	0.80[ASN][1000 genomes]
rs12567397	0.93[ASN][1000 genomes]
rs12569208	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17570453	0.93[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap]
rs2066895	0.93[ASN][1000 genomes]
rs3738241	0.93[ASN][1000 genomes]
rs3738242	0.93[ASN][1000 genomes]
rs56032568	0.93[ASN][1000 genomes]
rs59454169	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6686124	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6699777	0.82[ASN][1000 genomes]
rs72703566	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7544863	0.82[CHB][hapmap];0.89[CHD][hapmap];0.90[JPT][hapmap];0.93[ASN][1000 genomes]
rs926432	0.82[CHB][hapmap];0.90[JPT][hapmap];0.93[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	nsv869415	chr1:168467284-169153863	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
2	nsv831847	chr1:168669877-168850129	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12564363	POGK	cis	cerebellum	SCAN

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:168755600-168772800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:168756400-168758000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr1:168756800-168758200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr1:168757000-168757800	Enhancers	HepG2	liver
5	chr1:168757000-168758400	Enhancers	Adipose Nuclei	Adipose
6	chr1:168757200-168757600	Enhancers	Skeletal Muscle Female	skeletal muscle
7	chr1:168757200-168757800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr1:168757200-168758200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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