Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:66751463..66756785-chr8:66757093..66762344,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000205268	Chromatin interaction
ENSG00000272192	Chromatin interaction

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11782766	0.81[JPT][hapmap]
rs11995869	0.81[CEU][hapmap]
rs16932346	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1877640	0.81[JPT][hapmap]
rs2063685	0.81[JPT][hapmap]
rs35688380	0.81[CEU][hapmap]
rs3935203	0.81[CEU][hapmap]
rs6415604	0.88[ASW][hapmap];0.91[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];0.90[JPT][hapmap];0.88[MEX][hapmap];0.89[MKK][hapmap];0.86[TSI][hapmap];0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6472222	0.81[JPT][hapmap]
rs6472225	0.81[JPT][hapmap]
rs6472226	0.91[JPT][hapmap]
rs6472227	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6996048	0.81[CEU][hapmap]
rs7001138	0.81[CEU][hapmap]
rs7005571	1.00[CHB][hapmap]
rs7014676	0.81[JPT][hapmap]
rs73242909	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73242913	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73242953	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7821744	1.00[CHB][hapmap]
rs7828699	0.81[JPT][hapmap]
rs972362	0.81[JPT][hapmap]
rs974149	0.81[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1793412	chr8:66705321-66761366	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	esv3446467	chr8:66749863-67667068	Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	nsv611456	chr8:66759626-66772558	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7829484	MTFR1	cis	parietal	SCAN
rs7829484	GGH	cis	parietal	SCAN

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:66760600-66761200	Enhancers	Monocytes-CD14+_RO01746	blood
2	chr8:66760600-66761400	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr8:66760800-66761200	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr8:66760800-66761200	Enhancers	Primary B cells from peripheral blood	blood
5	chr8:66760800-66761200	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr8:66760800-66761200	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr8:66761000-66766000	Weak transcription	GM12878-XiMat	blood
8	chr8:66761000-66767000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr8:66761000-66769600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

Quick Search: