Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:117585468..117587755-chr7:120332691..120334847,2	K562	blood:

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

rs_ID	r²[population]
rs10244364	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10252771	0.83[CEU][hapmap];0.92[JPT][hapmap];0.82[EUR][1000 genomes]
rs10259910	0.83[CEU][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];0.88[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.82[EUR][1000 genomes]
rs10263711	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10267771	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10272923	0.83[GIH][hapmap]
rs10276758	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1156954	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs13239186	0.84[AMR][1000 genomes]
rs1548460	0.86[GIH][hapmap]
rs34031516	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34298216	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs34564710	0.82[EUR][1000 genomes]
rs34729439	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35582707	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6466641	1.00[YRI][hapmap]
rs6943120	0.86[GIH][hapmap]
rs6952555	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6961907	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6966339	0.86[GIH][hapmap]
rs6976111	0.92[JPT][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes]
rs727164	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7776980	1.00[GIH][hapmap];0.92[JPT][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.81[EUR][1000 genomes]
rs7782815	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][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	nsv869971	chr7:117420583-118274149	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10487380	CTTNBP2	cis	parietal	SCAN

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:117580200-117586400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr7:117584600-117587000	Enhancers	Fetal Lung	lung
3	chr7:117585400-117587000	Enhancers	Fetal Kidney	kidney
4	chr7:117585600-117587400	Enhancers	Fetal Stomach	stomach
5	chr7:117585800-117587200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr7:117585800-117587600	Enhancers	HMEC	breast
7	chr7:117586000-117587400	Enhancers	NHEK	skin
8	chr7:117586200-117587000	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr7:117586200-117587000	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr7:117586200-117587000	Enhancers	iPS-15b Cell Line	embryonic stem cell

Quick Search: