Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:87668814..87670322-chr8:87672192..87674304,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000205333	Chromatin interaction
ENSG00000233915	Chromatin interaction

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

rs_ID	r²[population]
rs1031649	0.87[JPT][hapmap]
rs11787263	0.83[JPT][hapmap]
rs1219096	0.87[JPT][hapmap]
rs12675140	0.87[JPT][hapmap]
rs13252425	0.87[JPT][hapmap]
rs13268738	0.86[CHD][hapmap];0.88[MEX][hapmap];0.81[TSI][hapmap];0.81[AMR][1000 genomes]
rs13278423	0.82[JPT][hapmap]
rs1348143	0.83[JPT][hapmap]
rs1372170	0.87[JPT][hapmap]
rs1379742	0.87[JPT][hapmap]
rs1441238	0.87[JPT][hapmap]
rs1441243	0.81[CHB][hapmap];0.86[CHD][hapmap]
rs1458134	0.86[JPT][hapmap]
rs1545221	0.87[JPT][hapmap]
rs1596027	0.87[JPT][hapmap]
rs16916907	0.86[JPT][hapmap]
rs2885471	0.90[CHB][hapmap];0.95[JPT][hapmap];0.95[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs315964	0.87[JPT][hapmap]
rs315973	0.91[JPT][hapmap]
rs315976	0.87[JPT][hapmap]
rs315977	0.87[JPT][hapmap]
rs3735967	0.86[CHD][hapmap]
rs3779799	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4960985	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.95[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4961211	0.86[JPT][hapmap]
rs4961212	0.83[JPT][hapmap]
rs7002965	0.87[JPT][hapmap]
rs7014125	0.87[JPT][hapmap]
rs7814749	0.87[JPT][hapmap]
rs7842410	0.86[CHB][hapmap];0.95[JPT][hapmap]
rs971146	0.87[JPT][hapmap]
rs978134	0.82[JPT][hapmap]
rs996077	0.87[JPT][hapmap]

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	nsv1023510	chr8:87429001-87874948	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv971682	chr8:87669499-87671270	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2013536	RIPK2	cis	parietal	SCAN
rs2013536	CA3	cis	cerebellum	SCAN

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:87669400-87672000	Enhancers	Pancreas	Pancrea
2	chr8:87669600-87670800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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